Publication
Title
NBEA : developmental disease gene with early generalized epilepsy phenotypes
Author
Institution/Organisation
CAUSES Study
EuroEPINOMICS-RES-MAE Working Grp
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
Language
English
Source (journal)
Annals of neurology. - Boston, Mass.
Publication
Boston, Mass. : 2018
ISSN
0364-5134
Volume/pages
84 :5 (2018) , p. 788-795
ISI
000450819800015
Pubmed ID
30269351
Full text (Publisher's DOI)
Full text (open access)
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 10.12.2018
Last edited 16.09.2021
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