NBEA: Developmental disease gene with early generalized epilepsy phenotypes
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...
Paper Details
Title
NBEA: Developmental disease gene with early generalized epilepsy phenotypes
Published Date
Oct 25, 2018
Journal
Volume
84
Issue
5
Pages
788 - 795
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