ReviewNeurology2022
The Phenotypic Continuum of
Open access · bronzeAbstract readReview
In one paragraph
Review in Neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
48citing papers in PubMed, 1 pooled it
10.5field-weighted citation impact, top 1% 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
48 citing papers in PubMed, 1 synthesis or guideline pooled it, 60 citations in OpenAlex.
- Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.Tremor and other hyperkinetic movements (New York, N.Y.) · 2023Pooled it
- Clinical and Genetic Spectrum ofNeurology. Genetics · 2026Article
- Mechanism of Rescue of NaInternational journal of molecular sciences · 2026Article
- ATP1A3: Uncommon and wavering epilepsy phenotype in a rare variant.Epileptic disorders : international epilepsy journal with videotape · 2026Article
- Active conformations of neuronal NaNature communications · 2026Article
- Data-Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies.Movement disorders clinical practice · 2026Review
- ATP1A3-related syndromes: our case-series unveiling a dynamic, fever-triggered and overlapping array of neurological phenotypes.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Functional impact of the ATP1A3-p.A813V variant: insights into a calcium-driven hyperexcitability cascade in rapid-onset dystonia-Parkinsonism.Journal of translational medicine · 2026Article
- The Movement Disorder Spectrum of ATP1A3-Related Disorders: Cross-Sectional Analysis and Video Archive of 88 Patients.Movement disorders : official journal of the Movement Disorder Society · 2026Observational
- Caenorhabditis elegans models of alternating hemiplegia of childhood have dominant neuromuscular junction defects.Disease models & mechanisms · 2026Article
- Article
- Article
- Ethanol disrupts cerebellar synaptic modulation by enhancing EAAT4-mediated glutamate uptake.Communications biology · 2026Article
- Adult-Onset Acute Cerebellar Ataxia with Preceding Essential Tremor-like Syndrome Associated with a Novel Variant in ATP1A3.Movement disorders clinical practice · 2026Article
- Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients.Brain : a journal of neurology · 2026Article
- Parallels between bipolar disorder and ATP1A3-related diseases: a window into the investigation of lithium for alternating hemiplegia of childhood.Orphanet journal of rare diseases · 2026Review
- Evidence of an allostatic response by intestinal tissues following induction of joint inflammation.PloS one · 2026Article
- Evaluation, Diagnosis, and Treatment of Concomitant Movement Disorders in Genetic Epilepsies.Epilepsy currents · 2025Review
- The cerebellum in dystonia: key player or background support?Arquivos de neuro-psiquiatria · 2025Review
- Surface Problem: Unveiling Extracellular Vesicles Surface Markers and Their Implications for Central Nervous System Diseases' Diagnosis and Treatment.Molecular neurobiology · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
29 authors at 1 institution in 1 country.
Aikaterini VezyroglouFrom the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK. k.vezyroglou@ucl.ac.uk.
Rhoda AkilapaFrom the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK.
Katy BarwickFrom the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK.
Saskia KoeneFrom the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK.
Catherine A BrownsteinFrom the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK.
Muriel Holder-EspinasseFrom the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK.
Andrew E FryFrom the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK.
Andrea H NémethFrom the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK.
George K TofarisFrom the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK.
Eleanor HayFrom the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK.
Imelda HughesFrom the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK.
Sahar MansourFrom the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK.
Santosh R MordekarFrom the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK.
Miranda SplittFrom the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK.
Peter D TurnpennyFrom the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK.
Demetria DemetriouFrom the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK.
Tamara T KoopmannFrom the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK.
Claudia A L RuivenkampFrom the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK.ORCID 0000-0003-1450-4376
Pankaj B AgrawalFrom the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK.
Lucinda CarrFrom the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK.
Virginia ClowesFrom the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK.
Neeti GhaliFrom the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK.
Susan Elizabeth HolderFrom the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK.
Jessica RadleyFrom the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK.
Alison MaleFrom the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK.
Sanjay M SisodiyaFrom the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK.
Manju A KurianFrom the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK.
J Helen CrossFrom the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK.ORCID 0000-0001-7345-4829
Meena BalasubramanianFrom the Developmental Neurosciences (A.V., K.B., M.A.K., J.H.C.), UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology (A.V., L.C., M.A.K., J.H.C.), Great Ormond Street Hospital, London, UK; Department of Clinical Genetics (R.A., M.H.-E.), Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, United Kingdom; Department of Clinical Genetics (S.K., T.T.K., C.A.L.R.), Leiden University Medical Center, The Netherlands; Division of Genetics and Genomics (C.A.B., P.B.A.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, MA; Department of Pediatrics (C.A.B., P.B.A.), Harvard Medical School, Boston, MA; All Wales Medical Genomics Service (A.E.F.), NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, UK; Division of Cancer and Genetics (A.E.F.), School of Medicine, Cardiff University, UK; Nuffield Department of Clinical Neurosciences (A.H.N., G.K.T.), University of Oxford, UK; Department of Clinical Genetics (E.H., A.M.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (I.H.), Central Manchester University Hospitals NHS Foundation Trust, UK; SW Thames Regional Genetics Service (S.M.), St George's University Hospitals NHS Foundation Trust, UK; Department of Paediatric Neurology (S.R.M.), Ryegate Children's Centre, Sheffield Children's Hospital, United Kingdom; Institute of Genetic Medicine (M.S.), Newcastle Upon Tyne, UK; Clinical Genetics (P.D.T.), Royal Devon & Exeter NHS Foundation Trust, UK; Aneurin Bevan University Health Board (D.D.), Royal Gwent Hospital, Newport, UK; Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, MA; North West Thames Regional Genetics Service (V.C., N.G., S.E.H., J.R.), Northwick Park Hospital, Middlesex, UK; Department of Clinical and Experimental Epilepsy (S.M.S.), UCL Queen Square Institute of Neurology, London, UK; Department of Oncology & Metabolism (M.B.), University of Sheffield, UK; and Sheffield Clinical Genetics Service (M.B.), Sheffield Childrens NHS Foundation Trust, UK.
Great Ormond Street Hospital for Children NHS Foundation Trust · GB
Funding
Medical Research Council MC_PC_16035Wellcome Trust
Abstract
BACKGROUND AND
objectives
methodsUndiagnosed individuals with
resultsTwenty-four individuals with a previously undiagnosed neurologic phenotype were found to carry 21 DISCUSSION: Our study shows that looking for a combination of paroxysmal events, hyperkinesia, neuropsychiatric symptoms, and cognitive impairment and evaluating the CADD score and variant location can help identify an
Indexed as
Cerebellar AtaxiaDystonic DisordersHemiplegiaHumansMutationPhenotypeSodium-Potassium-Exchanging ATPaseATP1A3 protein, humanSodium-Potassium-Exchanging ATPase
Identifiers
What OpenQuestion holds
Textmetadata
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.