De novo GABRA1 variants in childhood epilepsies and the molecular subregional effects.

ABSTRACT:

Background

The GABRA1 gene, encoding the GABR_AR subunit α1, plays vital roles in inhibitory neurons. Previously, the GABRA1 gene has been identified to be associated with developmental and epileptic encephalopathy (DEE) and idiopathic generalized epilepsy (IGE). This study aims to explore the phenotypic spectrum of GABRA1 and molecular subregional effect analysis.

Methods

Trios-based whole-exome sequencing was performed in patients with epilepsy. Previously reported GABRA1 mutations were systematically reviewed to analyze the molecular subregional effects.

Results

De novo GABRA1 mutations were identified in six unrelated patients with heterogeneous epilepsy, including three missense mutations (p.His83Asn, p.Val207Ph

SUBMITTER: Liu WH 

PROVIDER: S-EPMC10806124 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature