NBEA: Developmental disease gene with early generalized epilepsy phenotypes

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 novoNBEA variants in patients with NDD, establishingNBEA 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; 1–8

Source: Annals of Neurology - October 25, 2018 Category: Neurology Authors: 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, for t Tags: Brief Communication Source Type: research