Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.

ABSTRACT:

Background

Variants in GABRB2, encoding the β2 subunit of the γ-aminobutyric acid type A (GABA_A) receptor, can result in a diverse range of conditions, ranging from febrile seizures to severe developmental and epileptic encephalopathies. However, the mechanisms underlying the risk of developing milder vs more severe forms of disorder remain unclear. In this study, we conducted a comprehensive genotype-phenotype correlation analysis in a cohort of individuals with GABRB2 variants.

Methods

Genetic and electroclinical data of 42 individuals harbouring 26 different GABRB2 variants were collected and accompanied by electrophysiological analysis of the effects of the variants on receptor function.

Findings

Electrophysiological assessments of α1β2γ2 receptors reve

SUBMITTER: Mohammadi NA 

PROVIDER: S-EPMC11296288 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature