ArticleAnnals of neurology2018
NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
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Article in Annals of neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 2 of them syntheses that pooled it.
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36citing papers in PubMed, 2 pooled it
3.4field-weighted citation impact, top 7% of its field
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Who cites it
36 citing papers in PubMed, 2 syntheses or guidelines pooled it, 54 citations in OpenAlex.
- The role of genetic polymorphisms on drug response in Alzheimer's disease: a systematic review.BMC medical genomics · 2025Pooled it
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- Broader autism phenotype, the default mode network, and brain entropy: A network-level hypothesis.Research in neurodiversity · 2026Article
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- The effect of human-specific genetic variants on neuronal spinogenesis.Frontiers in genetics · 2026Review
- New Progressive Generalized Dystonia Phenotype in a Patient with NBEA-Related Neurodevelopmental Disease.Movement disorders clinical practice · 2025Article
- Age and Sex Effects on Blood Retrotransposable Element Expression Levels: Findings From the Population-Based Rhineland Study.Aging cell · 2025Article
- Identification of intragenic variants in pediatric patients with intellectual disability in Peru.BMC medical genomics · 2025Article
- Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition.Nature genetics · 2025Article
- Tonic-clonic seizures induce hypersomnia and suppress rapid eye movement sleep in mouse models of epilepsy.Sleep advances : a journal of the Sleep Research Society · 2025Article
- Article
- Brain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype.Neurogenetics · 2024Article
- Neurobeachin regulates receptor downscaling at GABAergic inhibitory synapses in a protein kinase A-dependent manner.Communications biology · 2024Article
- BEACH domain proteins function as cargo-sorting adaptors in secretory and endocytic pathways.The Journal of cell biology · 2024Article
- Proximity analysis of native proteomes reveals phenotypic modifiers in a mouse model of autism and related neurodevelopmental conditions.Nature communications · 2024Article
- Cerebral Palsy Phenotypes in Genetic Epilepsies.Pediatric neurology · 2024Article
- Article
- The lysosomal trafficking regulator "LYST": an 80-year traffic jam.Frontiers in immunology · 2024Review
- Neurobeachin controls the asymmetric subcellular distribution of electrical synapse proteins.Current biology : CB · 2023Article
- Genetic Testing in Children with Developmental and Epileptic Encephalopathies: A Review of Advances in Epilepsy Genomics.Children (Basel, Switzerland) · 2023Review
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Authors and funding
53 authors at 19 institutions in 9 countries.
Maureen S MulhernColumbia University Medical Center, Institute for Genomic Medicine, New York, NY.ORCID 0000-0001-8642-4741
Constance StumpelDepartment of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands.
Nicholas StongColumbia University Medical Center, Institute for Genomic Medicine, New York, NY.
Han G BrunnerDepartment of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands.
Louise BierColumbia University Medical Center, Institute for Genomic Medicine, New York, NY.
Natalie LippaColumbia University Medical Center, Institute for Genomic Medicine, New York, NY.
James RivielloDepartment of Neurology, Columbia University Department of Neurology, New York, NY.
Rob P W RouhlDepartment of Neurology, Maastricht University Medical Center, Maastricht, the Netherlands.
Marlies KempersDepartment of Clinical Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Rolph PfundtDepartment of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
Alexander P A StegmannDepartment of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands.
Mary K KukolichCook Children's Hospital, Fort Worth, TX.
Aida TelegrafiGeneDx, Gaithersburg, MD.
Anna LehmanMedical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
CAUSES study
Elena Lopez-RangelMedical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Nada HoucinatUniversity of Burgundy-Franche-Comté, UMR1231 GAD, INSERM, Dijon, France.
Magalie BarthDepartment of Biochemistry and Genetics, Angers University Hospital Center, Angers, France.
Nicolette den HollanderClinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Mariette J V HofferClinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Sarah WeckhuysenCenter for Molecular Neurology, VIB, Neurogenetics Group, Antwerp, Belgium.
EuroEPINOMICS-RES-MAE working group
Jolien RooversCenter for Molecular Neurology, VIB, Neurogenetics Group, Antwerp, Belgium.
Tania DjemieCenter for Molecular Neurology, VIB, Neurogenetics Group, Antwerp, Belgium.
Diana BarcaPediatric Neurology Clinic, Al Obregia Hospital, Carol Davila University of Medicine, Bucharest, Romania.
Berten CeulemansDepartment of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.
Dana CraiuPediatric Neurology Clinic, Al Obregia Hospital, Carol Davila University of Medicine, Bucharest, Romania.
Johannes R LemkeInstitute for Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
Christian KorffPediatric Neurology Unit, Child and Adolescent Department, University Hospitals, Geneva, Switzerland.
Heather C MeffordDepartment of Pediatrics, University of Washington, Seattle, WA.
Candace T MeyersDepartment of Pediatrics, University of Washington, Seattle, WA.
Zsuzsanna SieglerBethesda Children's Hospital, Department of Neurology, Budapest, Hungary.
Susan M HiattHudsonAlpha Institute for Biotechnology, Huntsville, AL.
Gregory M CooperHudsonAlpha Institute for Biotechnology, Huntsville, AL.
E Martina BebinDepartment of Neurology, University of Alabama at Birmingham, Birmingham, AL.
Lot Snijders BlokDepartment of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
Hermine E Veenstra-KnolDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Evan H BaughColumbia University Medical Center, Institute for Genomic Medicine, New York, NY.
Eva H BrilstraUniversity Medical Center Utrecht, Department of Genetics, Utrecht, the Netherlands.
Catharina M L Volker-TouwUniversity Medical Center Utrecht, Department of Genetics, Utrecht, the Netherlands.
Ellen van BinsbergenUniversity Medical Center Utrecht, Department of Genetics, Utrecht, the Netherlands.
Anya Revah-PolitiColumbia University Medical Center, Institute for Genomic Medicine, New York, NY.
Elaine PereiraDivision of Clinical Genetics, Department of Pediatrics, New York-Presbyterian Morgan Stanley Children's Hospital, Columbia University Medical Center, New York, NY.
Danielle McBrianDepartment of Neurology, Columbia University Department of Neurology, New York, NY.
Mathilde PacaultGenetics Service, Nantes University Hospital Center, Nantes, France.
Bertrand IsidorGenetics Service, Nantes University Hospital Center, Nantes, France.
Cedric Le CaignecGenetics Service, Nantes University Hospital Center, Nantes, France.
Brigitte Gilbert-DussardierGenetics Service, Poitiers University Hospital Center, Poitiers, France.
Frederic BilanGenetics Service, Poitiers University Hospital Center, Poitiers, France.
Erin L HeinzenColumbia University Medical Center, Institute for Genomic Medicine, New York, NY.ORCID 0000-0002-7268-8559
David B GoldsteinColumbia University Medical Center, Institute for Genomic Medicine, New York, NY.
Servi J C StevensDepartment of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands.
Tristan T SandsColumbia University Medical Center, Institute for Genomic Medicine, New York, NY.
Columbia University Irving Medical Center · USRadboud University Nijmegen · NLUniversity of Antwerp · BESmall Business Administration · USUniversity of Washington · USCentre Hospitalier Universitaire de Nantes · FRMaastricht University Medical Centre · NLUniversity of British Columbia · CACarol Davila University of Medicine and Pharmacy · ROLeiden University Medical Center · NLMorgan Stanley Children's Hospital · USUniversity Medical Center Groningen · NLUtrecht University · NLAntwerp University Hospital · BEBethesda Gyermekkórház · HUCook Children's Medical Center · USGenVec · USInserm · FRUniversity of Alabama at Birmingham · US
Funding
Clinical and Translational Science AwardUL1TR001873 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI REILLY, MUREDACH P · 2016 to 2025
$99.0MSouth-seq: DNA sequencing for newborn nurseries in the SouthU01HG007301 · NHGRI · HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY · PI BARSH, GREGORY STEFAN, COOPER, GREGORY MICHAEL · 2017 to 2021
$11.9MA Genomic Approach to EpilepsyR01NS069605 · NINDS · UNIVERSITY OF WASHINGTON · PI MEFFORD, HEATHER C. · 2010 to 2019
$4.9MNCATS NIH HHS UL1 TR001873NCATS NIH HHS UL1TR001873NHGRI NIH HHS U01 HG007301NINDS NIH HHS R01 NS069605
Abstract
NBEA is a candidate gene for autism, and de novo variants have been reported in neurodevelopmental disease (NDD) cohorts. However, NBEA has not been rigorously evaluated as a disease gene, and associated phenotypes have not been delineated. We identified 24 de novo NBEA variants in patients with NDD, establishing NBEA as an NDD gene. Most patients had epilepsy with onset in the first few years of life, often characterized by generalized seizure types, including myoclonic and atonic seizures. Our data show a broader phenotypic spectrum than previously described, including a myoclonic-astatic epilepsy-like phenotype in a subset of patients. Ann Neurol 2018;84:796-803.
Indexed as
AdolescentCarrier ProteinsChildChild, PreschoolEpilepsy, GeneralizedFemaleGenotypeHumansMaleMutationNerve Tissue ProteinsNeurodevelopmental DisordersPhenotypeCarrier ProteinsNBEA protein, humanNerve Tissue Proteins
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