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RESEARCH PRODUCT
NBEA : developmental disease gene with early generalized epilepsy phenotypes
Hermine E. Veenstra-knolRolph PfundtNada HoucinatGregory M. CooperJames J. RivielloFrédéric BilanServi J. C. StevensSusan M. HiattMary K. KukolichAnna LehmanBrigitte Gilbert-dussardierCédric Le CaignecChristian KorffCatharina M L Volker-touwEva H. BrilstraLouise BierAlexander P.a. StegmannEvan H. BaughEvan H. BaughBerten CeulemansDavid GoldsteinMagalie BarthHeather C. MeffordElaine PereiraHan G. BrunnerHan G. BrunnerLot Snijders BlokE. Lopez-rangelRob P.w. RouhlAnya Revah-politiBertrand IsidorMathilde PacaultConstance T. R. M. StumpelE. Martina BebinDana CraiuAida TelegrafiMarlies KempersJolien RooversErin L. HeinzenCandace T. MeyersD BarcaTania DjémiéNicholas StongZsuzsanna SieglerMaureen S. MulhernJohannes R. LemkeTristan T. SandsNatalie LippaNicolette S. Den HollanderDanielle McbrianEllen Van BinsbergenSarah WeckhuysenMariëtte J.v. Hoffersubject
Male0301 basic medicineCarrier Proteins/geneticsCandidate geneDiseaseNeurodevelopmental Disorders/geneticsEpilepsy0302 clinical medicineNerve Tissue Proteins/geneticsChildAtonic seizureGeneticsddc:618PhenotypePhenotypeNeurologyChild PreschoolEpilepsy GeneralizedFemaleNEUROBEACHINRare cancers Radboud Institute for Health Sciences [Radboudumc 9]AdolescentGenotypeGeneralized/geneticsNerve Tissue ProteinsBiologyPATIENTArticle03 medical and health sciencesAll institutes and research themes of the Radboud University Medical CentermedicineJournal ArticleHumansGeneralized epilepsyAUTISMPreschoolGeneSPECTRUMNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]EpilepsyDELETIONNBEA encodes neurobeachinmedicine.diseaseFRAMEWORK030104 developmental biology[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsNeurodevelopmental DisordersDE-NOVO MUTATIONSMutationAutismNeurology (clinical)Human medicineCarrier Proteins030217 neurology & neurosurgerydescription
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
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2018-11-01 | Annals of neurology |