A novel de novo GABRA2 gene missense variant causing developmental epileptic encephalopathy in a Chinese patient.

ABSTRACT:

Background

Variants in the GABRA2 gene, which encodes the α2 subunit of the γ-aminobutyric acid A receptor, have been linked to a rare form of developmental and epileptic encephalopathy (DEE) referred to as DEE78. Only eight patients have been reported globally. This study presents the clinical presentation and genetic analysis of a Chinese family with a child diagnosed with DEE78, due to a novel GABRA2 variant.

Methods

Genetic diagnosis was performed using trio-whole exome sequencing, followed by bioinformatics predictions of pathogenicity. Structural modeling assessed the potential impact of the variant. A mutant plasmid was constructed and transfected into 293 T cells. Western blotting (WB) was used to evaluate mutant protein expression, while co-immunoprecipitation (Co-I

SUBMITTER: Yang L 

PROVIDER: S-EPMC11752098 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature