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Journal Article

NBEA: Developmental disease gene with early generalized epilepsy phenotypes


Snijders Blok,  Lot
Donders Institute for Brain, Cognition and Behaviour, External Organizations;
Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society;

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Mulhern, M. S., Stumpel, C., Stong, N., Brunner, H. G., Bier, L., Lippa, N., et al. (2018). NBEA: Developmental disease gene with early generalized epilepsy phenotypes. Annals of Neurology, 84(5), 788-795. doi:10.1002/ana.25350.

Cite as: https://hdl.handle.net/21.11116/0000-0002-72DA-8
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.