Clinical phenotype and genotype of children with GABA_A receptor α1 subunit gene-related epilepsy.

ABSTRACT:

Objective

This study aimed to summarize the clinical phenotype and genotype of children with epilepsy caused by GABRA1 gene variants.

Methods

Eight epilepsy patients, who were admitted to Qilu Hospital of Shandong University from 2015 to 2021, were enrolled in the study. GABRA1 gene variants were detected by whole-exome sequencing. Epilepsy clinical manifestations, electroencephalography, neuroimaging characteristics and treatment methods were retrospectively analyzed.

Results

Among the eight patients, four were males and four were females. Epilepsy onset age was between 3 and 8 months of age. Two patients had a family history of epilepsy. Six cases were de novo variants, and two were hereditary variants. Two children carried the same pathogenic variants, and f

SUBMITTER: Zhang L 

PROVIDER: S-EPMC9350551 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature