NBEA: Developmental disease gene with early generalized epilepsy phenotypes

Maureen S. Mulhern, Constance Stumpel, Nicholas Stong, Han G. Brunner, Louise Bier, Natalie Lippa, James Riviello, Rob P. W. Rouhl, Marlies Kempers, Rolph Pfundt, Alexander P. A. Stegmann, Mary K. Kukolich, Aida Telegrafi, Anna Lehman, Elena Lopez-Rangel, Nada Houcinat, Magalie Barth, Nicolette den Hollander, Mariette J. V. Hoffer, Sarah WeckhuysenJolien Roovers, Tania Djemie, Diana Barca, Berten Ceulemans, Dana Craiu, Johannes R. Lemke, Christian Korff, Heather C. Mefford, Candace T. Meyers, Zsuzsanna Siegler, Susan M. Hiatt, Gregory M. Cooper, E. Martina Bebin, Lot Snijders Blok, Hermine E. Veenstra-Knol, Evan H. Baugh, Eva H. Brilstra, Catharina M. L. Volker-Touw, Ellen van Binsbergen, Anya Revah-Politi, Elaine Pereira, Danielle McBrian, Mathilde Pacault, Bertrand Isidor, Cedric Le Caignec, Brigitte Gilbert-Dussardier, Frederic Bilan, Erin L. Heinzen, David B. Goldstein, Servi J. C. Stevens, CAUSES Study, EuroEPINOMICS‐RES‐MAE working group, Tristan T. Sands*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

20 Citations (Web of Science)


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

Original languageEnglish
Pages (from-to)788-795
Number of pages8
JournalAnnals of Neurology
Issue number5
Publication statusPublished - Nov 2018



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