NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
Where this comes from
- Record sourced from PubMed, PMID 30269351.
- Also identified by DOI 10.1002/ana.25350 and PMC identifier 6249120.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
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 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.
Medical subject headings
- Carrier Proteins
- Nerve Tissue Proteins
- Neurodevelopmental Disorders