Phenotypic Spectrum and Prognosis of Epilepsy Patients With GABRG2 Variants.

ABSTRACT:

Objective

This study aimed to obtain a comprehensive understanding of the genetic and phenotypic aspects of GABRG2-related epilepsy and its prognosis and to explore the potential prospects for personalized medicine.

Methods

Through a multicenter collaboration in China, we analyzed the genotype-phenotype correlation and antiseizure medication (ASM) of patients with GABRG2-related epilepsy. The three-dimensional protein structure of the GABRG2 variant was modeled to predict the effect of GABRG2 missense variants using PyMOL 2.3 software.

Results

In 35 patients with GABRG2 variants, 22 variants were de novo, and 18 variants were novel. The seizure onset age was ranged from 2 days after birth to 34 months (median age: 9 months). T

SUBMITTER: Yang Y 

PROVIDER: S-EPMC8964129 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature