ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
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Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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31 citing papers in PubMed, 1 synthesis or guideline pooled it, 55 citations in OpenAlex.
- Genetic landscape of patients with atypical absence status epilepticus: A systematic review.Epilepsia open · 2026Pooled it
- A 350 kbGenes · 2026Article
- A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series.Annals of clinical and translational neurology · 2026Article
- Epilepsy Phenotypic Spectrum of NUS1-Related Disorder: A Case Series.Annals of the Child Neurology Society · 2026Article
- Intellectual disorder type 98 caused by a novel NEXMIF variant: a case report and literature review.Frontiers in medicine · 2026Article
- Sex-specific angiogenic responses in endothelial cells-role of the pluripotency factor OCT4.Angiogenesis · 2025Article
- Restoration of NEXMIF expression rescues abnormalities in gene transcription, neuron maturation and autistic-like behaviors in Nexmif knockout mice.Translational psychiatry · 2025Article
- Article
- Gonadal mosaicism and paradoxical phenotype inJournal of genetics · 2025Article
- NEXMIF overexpression is associated with autism-like behaviors and alterations in dendritic arborization and spine formation in mice.Frontiers in neuroscience · 2025Article
- Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.Nature neuroscience · 2024Article
- Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.medRxiv : the preprint server for health sciences · 2024Article
- Developmental and epileptic encephalopathies.Nature reviews. Disease primers · 2024Review
- NEXMIF Combined with KIDINS220 Gene Mutation Caused Neurodevelopmental Disorder and Epilepsy: One Case Report.Actas espanolas de psiquiatria · 2024Article
- X-Linked Epilepsies: A Narrative Review.International journal of molecular sciences · 2024Review
- HeterozygousHeliyon · 2024Article
- Complexity in Genetic Epilepsies: A Comprehensive Review.International journal of molecular sciences · 2023Review
- Article
- The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing.Epilepsia open · 2023Article
- Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies.Neurology · 2023Article
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Authors and funding
85 authors at 20 institutions in 16 countries.
Hannah Stamberger *Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia.
Trine B Hammer *Department of Epilepsy Genetics, Danish Epilepsy Centre Filadelfia, Dianalund, Denmark.
Elena GardellaDepartment of Epilepsy Genetics, Danish Epilepsy Centre Filadelfia, Dianalund, Denmark.
Danique R M VlaskampEpilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia.
Birgitte BertelsenCenter for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Simone MandelstamRoyal Children's Hospital, Melbourne, VIC, Australia.
Iris de LangeDepartment of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Jing ZhangDepartment of Pediatrics, Peking University First Hospital, Beijing, China.
Candace T MyersDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.
Christina FengerDepartment of Epilepsy Genetics, Danish Epilepsy Centre Filadelfia, Dianalund, Denmark.
Zaid AfawiTel Aviv University Medical School, Tel Aviv, Israel.
Edith P Almanza FuerteDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.
Danielle M AndradeDivision of Neurology, Toronto Western Hospital, University of Toronto, Toronto, ON, Canada.
Yunus BalcikEpilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, University Hospital Frankfurt, and Center for Personalized Translational Epilepsy Research (CePTER), Goethe-University Frankfurt, Frankfurt am Main, Germany.
Bruria Ben ZeevEdmond and Lily Safra Children's Hospital, Pediatric Neurology Unit, Tel-Hashomer, Israel.
Mark F BennettEpilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia.
Samuel F BerkovicEpilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia.
Bertrand IsidorService de génétique médicale, CHU Nantes, Nantes, France.
Arjan BoumanDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Eva BrilstraDepartment of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Øyvind L BuskSection for Medical Genetics, Telemark Hospital, Skien, Norway.
Anita CairnsDepartment of Neurosciences, Queensland Children's Hospital, Brisbane, QLD, Australia.
Roseline CaumesService de Neuropédiatrie, Pôle de Médecine et Spécialités Médicales, CHRU de Lille, Lille, France.
Nicolas ChatronLyon University Hospitals, Departments of Genetics, Lyon, France.
Russell C DaleT.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, Australia.
Christa de GeusUniversity Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.
Patrick EderyLyon University Hospitals, Departments of Genetics, Lyon, France.
Deepak GillT.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, Australia.
Jacob Bie Granild-JensenChild and Youth, Randers Regional Hospital, Randers, Denmark.
Lauren GundersonDepartment of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Boudewijn GunningStichting Epilepsie Instellingen Nederland, Zwolle, The Netherlands.
Gali HeimerEdmond and Lily Safra Children's Hospital, Pediatric Neurology Unit, Tel-Hashomer, Israel.
Johan R HelleSection for Medical Genetics, Telemark Hospital, Skien, Norway.
Michael S HildebrandEpilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia.
Georgie HollingsworthEpilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia.
Volodymyr KharytonovClinical Hospital "Psychiatry", Kyiv, Ukraine.
Eric W KleeDepartment of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Bobby P C KoelemanDepartment of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
David A KoolenDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Christian KorffPediatric Neurology Unit, University Hospitals, Geneva, Switzerland.
Sébastien KüryService de génétique médicale, CHU Nantes, Nantes, France.
Gaetan LescaLyon University Hospitals, Departments of Genetics, Lyon, France.
Dorit LevTel Aviv University, Sackler School of Medicine, Tel Aviv, Israel.
Richard J LeventerRoyal Children's Hospital, Melbourne, VIC, Australia.
Mark T MackayRoyal Children's Hospital, Melbourne, VIC, Australia.
Erica L MackeCenter for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
Meriel McEntagartMedical Genetics, St George's University Hospitals NHS FT, Cranmer Tce, London, United Kingdom.
Shekeeb S MohammadT.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, Australia.
Pauline MoninLyon University Hospitals, Departments of Genetics, Lyon, France.
Martino MontomoliDepartment of Neuroscience, Pharmacology and Child Health, Children's Hospital A. Meyer and University of Florence, Florence, Italy.
Eva MoravaDepartment of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Sebastien MouttonCPDPN, Pôle mère enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence, France.
Alison M MuirDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.
Elena ParriniDepartment of Neuroscience, Pharmacology and Child Health, Children's Hospital A. Meyer and University of Florence, Florence, Italy.
Peter ProcopisT.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, Australia.
Emmanuelle RanzaMedigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.
Laura ReedGreat Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Philipp S ReifEpilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, University Hospital Frankfurt, and Center for Personalized Translational Epilepsy Research (CePTER), Goethe-University Frankfurt, Frankfurt am Main, Germany.
Felix RosenowEpilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, University Hospital Frankfurt, and Center for Personalized Translational Epilepsy Research (CePTER), Goethe-University Frankfurt, Frankfurt am Main, Germany.
Massimiliano RossiLyon University Hospitals, Departments of Genetics, Lyon, France.
Lynette G SadleirDepartment of Paediatrics and Child Health, University of Otago Wellington, Wellington, New Zealand.
Tara SadowayDivision of Neurology, Toronto Western Hospital, University of Toronto, Toronto, ON, Canada.
Helenius J SchelhaasStichting Epilepsie Instellingen Nederland, Zwolle, The Netherlands.
Amy L SchneiderEpilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia.
Krati ShahOne Centre of Genetics, Vadodara, India.
Ruth ShalevNeuropaediatric Unit, Shaare Zedek Medical Centre, Hebrew University School of Medicine, Jerusalem, Israel.
Sanjay M SisodiyaDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom and Chalfont Centre for Epilepsy, Bucks, UK.
Thomas SmolInstitut de Génétique Médicale, Hopital Jeanne de Flandre, Lille University Hospital, Lille, France.
Connie T R M StumpelDepartment of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
Kyra StuurmanDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Joseph D SymondsPaediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.
Frederic Tran Mau-ThemUF Innovation en diagnostic genomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.
Nienke VerbeekDepartment of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Judith S VerhoevenAcademic Center for Epileptology, Kempenhaege, Department of Neurology, Heeze, The Netherlands.
Geoffrey WallaceDepartment of Neurosciences, Queensland Children's Hospital, Brisbane, QLD, Australia.
Keren YosovichMolecular Genetics Lab, Wolfson Medical Center, Holon, Israel.
Yuri A ZarateSection of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA.
Ayelet ZeremTel Aviv University, Sackler School of Medicine, Tel Aviv, Israel.
Sameer M ZuberiPaediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.
Renzo GuerriniDepartment of Neuroscience, Pharmacology and Child Health, Children's Hospital A. Meyer and University of Florence, Florence, Italy.
Heather C MeffordDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.
Chirag PatelGenetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.
Yue-Hua ZhangDepartment of Pediatrics, Peking University First Hospital, Beijing, China.
Rikke S Møller *Department of Epilepsy Genetics, Danish Epilepsy Centre Filadelfia, Dianalund, Denmark.
Ingrid E Scheffer *Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia. i.scheffer@unimelb.edu.au.ORCID http://orcid.org/0000-0002-2311-2174
Tel Aviv University · ILThe University of Melbourne · AURoyal Children's Hospital · AUThe University of Sydney · AUUniversity Medical Center Utrecht · NLUniversity of Washington · USGoethe University Frankfurt · DEMayo Clinic · USMeyer Children's Hospital · ITUniversité de Lyon · FRCentre National de la Recherche Scientifique · FRCopenhagen University Hospital · DKErasmus MC · NLGénétique Médicale & Génomique Fonctionelle · FRInserm · FRPeking University · CNRoyal Hospital for Children · GBStichting Epilepsie Instellingen Nederland · NLTelemark Hospital · NOUniversity Medical Center Groningen · NL
Funding
A Genomic Approach to EpilepsyR01NS069605 · NINDS · UNIVERSITY OF WASHINGTON · PI MEFFORD, HEATHER C. · 2010 to 2019
$4.9MNINDS NIH HHS R01 NS069605
Abstract
purposePathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with intellectual disability (ID), autism spectrum disorder, and epilepsy. We aimed to delineate the female and male phenotypic spectrum of NEXMIF encephalopathy.
methodsThrough an international collaboration, we analyzed the phenotypes and genotypes of 87 patients with NEXMIF encephalopathy.
resultsSixty-three females and 24 males (46 new patients) with NEXMIF encephalopathy were studied, with 30 novel variants. Phenotypic features included developmental delay/ID in 86/87 (99%), seizures in 71/86 (83%) and multiple comorbidities. Generalized seizures predominated including myoclonic seizures and absence seizures (both 46/70, 66%), absence with eyelid myoclonia (17/70, 24%), and atonic seizures (30/70, 43%). Males had more severe developmental impairment; females had epilepsy more frequently, and varied from unaffected to severely affected. All NEXMIF pathogenic variants led to a premature stop codon or were deleterious structural variants. Most arose de novo, although X-linked segregation occurred for both sexes. Somatic mosaicism occurred in two males and a family with suspected parental mosaicism.
conclusionNEXMIF encephalopathy is an X-linked, generalized developmental and epileptic encephalopathy characterized by myoclonic-atonic epilepsy overlapping with eyelid myoclonia with absence. Some patients have developmental encephalopathy without epilepsy. Males have more severe developmental impairment. NEXMIF encephalopathy arises due to loss-of-function variants.
Indexed as
Autism Spectrum DisorderBrain DiseasesEpilepsyFemaleGenes, X-LinkedHumansMaleNerve Tissue ProteinsSeizuresNerve Tissue ProteinsNEXMIF protein, humandevelopmental and epileptic encephalopathyepilepsyintellectual disabilityKIAA2022NEXMIF
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