Article
Phenotypic spectrum of patients with GABRB2 variants: from mild febrile seizures to severe epileptic encephalopathy.
Developmental medicine and child neurology - 1 Oct 2020
Yang Ying, Xiangwei Wenshu, Zhang Xiaoli, Xiao Jiangxi, Chen Jiaoyang, Yang Xiaoling, Jia Tianming, Yang Zhixian, Jiang Yuwu, Zhang Yuehua
Abstract excerpt
AIM: To characterize the different phenotypes of GABRB2-related epilepsy and to establish a genotype-phenotype correlation. METHOD: We used next-generation sequencing to identify GABRB2 variants in 15 patients. RESULTS: Eleven GABRB2 variants were novel and 12 were de novo. The age at the onset of seizures ranged from 1 day to 26 months. Nine patients had multiple seizure types, including focal seizures,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.