ArticleNeurology2023
Clinical and Neurophysiologic Phenotypes in Neonates With
Open access · greenAbstract read
In one paragraph
Article in Neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
3.4field-weighted citation impact, top 8% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed, 11 citations in OpenAlex.
- BRAT1 Mutation - A Developmental and Epileptic Encephalopathy with a Recognizable Phenotype.Annals of Indian Academy of Neurology · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
32 authors at 1 institution in 1 country.
Evelina CarapanceaFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.ORCID 0000-0002-2260-3078
Marie-Coralie CornetFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.ORCID 0000-0001-5233-0800
Mathieu MilhFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.ORCID 0000-0002-2454-8543
Lucrezia De CosmoFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.ORCID 0000-0003-1198-1492
Eric J HuangFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.ORCID 0000-0002-5381-3801
Tiziana GranataFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
Pasquale StrianoFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.ORCID 0000-0002-6065-1476
Berten CeulemansFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
Anja SteinFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.ORCID 0000-0002-0497-4609
Deborah Morris-RosendahlFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.ORCID 0000-0002-7780-4707
Greta ContiFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
Nipa MitraFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
F Lucy RaymondFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.ORCID 0000-0003-2652-3355
David H RowitchFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.ORCID 0000-0002-0079-0060
Roberta SolazziFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
Fabiana VercellinoFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
Paola De LisoFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.ORCID 0000-0001-7836-0194
Gianluca D'OnofrioFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.ORCID 0000-0003-4987-5919
Clementina BoniverFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
Olivier DanhaiveFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.ORCID 0000-0002-8208-3086
Katherine CarkeekFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
Vincenzo SalpietroFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.ORCID 0000-0003-0132-7921
Sarah WeckhuysenFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.ORCID 0000-0003-2878-1147
Marny FedrigoFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.ORCID 0000-0002-3081-2937
Annalisa AngeliniFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.ORCID 0000-0002-3578-4488
Barbara CastellottiFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.ORCID 0000-0002-9098-3041
Damien LedererFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.ORCID 0000-0002-6874-6322
Valerie BenoitFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.ORCID 0000-0002-1098-9452
Federico RaviglioneFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.ORCID 0000-0001-6799-2911
Renzo GuerriniFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.ORCID 0000-0002-7272-7079
Robertino DilenaFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.ORCID 0000-0003-1064-1840
Maria Roberta CilioFrom the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital "La Timone" Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli Studi di Bari Aldo Moro, Italy; Division of Neuropathology (E.J.H.), Department of Pathology, University of California, San Francisco; Department of Pediatric Neuroscience (T.G., R.S.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) (P.S., G.D.O.), Università Degli studi di Genova, Italy; IRCCS Istituto Giannina Gaslini (P.S.), Università Degli studi di Genova, Italy; Division of Paediatric Neurology (Berten Ceulemans), Department of Pediatrics, Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Division of Neonatology (A.S.), Department of Pediatrics, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany; Clinical Genetics and Genomics Laboratory (D.M.-R.), Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; NHLI (D.M.-R.), Imperial College London, United Kingdom; Department of Pediatric Neurology (G.C., R.G.), Meyer Azienda Ospedaliero Universitaria Meyer, Università Degli Studi di Firenze, Florence, Italy; Neonatal Intensive Care Unit (N.M.), Cambridge University Hospitals, Cambridge, United Kingdom; Department of Medical Genetics (F.L.R., D.H.R.), Cambridge Institute of Medical Research, University of Cambridge, United Kingdom; Division of Neonatology (D.H.R.), Department of Pediatrics, University of California, San Francisco; Child Neuropsychiatry Unit (F.V.), SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, Italy; Department of Neuroscience (P.D.L.), Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Division of Pediatric Neurology and Neurophysiology (C.B.), Department of Women's and Children's Health, Università Degli Studi di Padova, Italy; Division of Neonatology (O.D., K.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium; UCL Queen Square Institute of Neurology (V.S.), London, United Kingdom; The National Hospital for Neurology and Neurosurgery (V.S.), London, United Kingdom; Department of Neurology (S.W.), Universitair Ziekenhuis Antwerpen, Universiteit Antwerpen, Antwerp, Belgium; Applied&Translational Neurogenomics Group (S.W.), VIB Center for Molecular Neurology, Antwerp, Belgium; Translational Neurosciences (S.W.), Faculty of Medicine and Health Science, Universiteit Antwerpen, Belgium; Department of Cardiac, Thoracic, Vascular Sciences, and Public Health (M.F., A.A.), Università Degli Studi di Padova, Italy; Department of Medical Genetics and Neurogenetics (Barbara Castellotti), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Human Genetics (D.L., V.B.), Institut de Pathologie et de Génétique, Charleroi, Belgium; Hospital Neuropsychiatry Service (F.R.), ASST Rhodense, Rho, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (R.D.), Department of Clinical Neurophysiology, Milan, Italy; and Division of Pediatric Neurology (M.R.C.), Department of Pediatrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium. roberta.cilio@uclouvain.be.ORCID 0000-0003-2481-8053
Institut de Neurosciences de la Timone · FR
Funding
Regulation of Cellular Pathwaysin Human Brain DevelopmentP01NS083513 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI ALVAREZ-BUYLLA, ARTURO · 2014 to 2024
$12.6MNINDS NIH HHS P01 NS083513
Abstract
BACKGROUND AND
objectives
methodsThrough a multinational collaborative, we studied a cohort of neonates with encephalopathy associated with biallelic pathogenic variants in
resultsWe included 19 neonates. Most neonates were born at term (16/19) from nonconsanguineous parents. 15/19 (79%) were admitted soon after birth to a neonatal intensive care unit, exhibiting multifocal myoclonus, both spontaneous and exacerbated by stimulation. 7/19 (37%) had arthrogryposis at birth, and all except 1 progressively developed hypertonia in the first week of life. Multifocal myoclonus, which was present in all but 1 infant, was the most prominent manifestation and did not show any EEG correlate in 16/19 (84%). Video-EEG at onset was unremarkable in 14/19 (74%) infants, and 6 (33%) had initially been misdiagnosed with hyperekplexia. Multifocal seizures were observed at a median age of 14 days (range: 1-29). During the first months of life, all infants developed progressive encephalopathy, acquired microcephaly, prolonged bouts of apnea, and bradycardia, leading to cardiac arrest and death at a median age of 3.5 months (range: 20 days to 30 months). Only 7 infants (37%) received a definite diagnosis before death, at a median age of 34 days (range: 25-126), and almost two-thirds (12/19, 63%) were diagnosed 8 days to 12 years postmortem (median: 6.5 years). Neuropathology examination, performed in 3 patients, revealed severely delayed myelination and diffuse astrogliosis, sparing the upper cortical layers. DISCUSSION:
Indexed as
Brain DiseasesHyperekplexiaMyoclonusApneaBradycardiaHumansMuscle HypertoniaNuclear ProteinsPhenotypeSeizuresBRAT1 protein, humanNuclear Proteins
Identifiers
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