NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
Maureen S MulhernConstance StumpelNicholas StongHan G BrunnerLouise BierNatalie LippaJames RivielloRob P W RouhlMarlies KempersRolph PfundtAlexander P A StegmannMary K KukolichAida TelegrafiAnna Lehmannull nullElena Lopez-RangelNada HoucinatMagalie BarthNicolette den HollanderMariette J V HofferSarah Weckhuysennull nullJolien RooversTania DjemieDiana BarcaBerten CeulemansDana CraiuJohannes R LemkeChristian KorffHeather C MeffordCandace T MeyersZsuzsanna SieglerSusan M HiattGregory M CooperE Martina BebinLot Snijders BlokHermine E Veenstra-KnolEvan H BaughEva H BrilstraCatharina M L Volker-TouwEllen van BinsbergenAnya Revah-PolitiElaine PereiraDanielle McBrianMathilde PacaultBertrand IsidorCedric Le CaignecBrigitte Gilbert-DussardierFrederic BilanErin L HeinzenDavid B GoldsteinServi J C StevensTristan T SandsPublished in: Annals of neurology (2018)
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.
Keyphrases
- copy number
- end stage renal disease
- genome wide
- newly diagnosed
- ejection fraction
- chronic kidney disease
- prognostic factors
- peritoneal dialysis
- genome wide identification
- autism spectrum disorder
- gene expression
- dna methylation
- transcription factor
- temporal lobe epilepsy
- intellectual disability
- artificial intelligence
- electronic health record
- deep learning
- data analysis