Characterization of the GABRB2-Associated Neurodevelopmental Disorders.

ABSTRACT:

Objective

We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in the gene GABRB2, coding for the γ-aminobutyric acid type A (GABA_A ) receptor subunit β2.

Methods

We recruited and systematically evaluated 25 individuals with variants in GABRB2, 17 of whom are newly described and 8 previously reported with additional clinical data. Functional analysis was performed using a Xenopus laevis oocyte model system.

Results

Our cohort of 25 individuals from 22 families with variants in GABRB2 demonstrated a range of epilepsy phenotypes from genetic generalized epilepsy to developmental and epileptic encephalopathy. Fifty-eight percent of individuals had pharmacoresistant epilepsy; response to medications targeting the

SUBMITTER: El Achkar CM 

PROVIDER: S-EPMC9161810 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature