Epileptic Encephalopathy GABRB Structural Variants Share Common Gating and Trafficking Defects.

ABSTRACT: Variants in the GABRB gene, which encodes the β subunit of the GABA_A receptor, have been implicated in various epileptic encephalopathies and related neurodevelopmental disorders such as Dravet syndrome and Angelman syndrome. These conditions are often associated with early-onset seizures, developmental regression, and cognitive impairments. The severity and specific features of these encephalopathies can differ based on the nature of the genetic variant and its impact on GABA_A receptor function. These variants can lead to dysfunction in GABA_A receptor-mediated inhibition, resulting in an imbalance between neuronal excitation and inhibition that contributes to the development of seizures. Here, 13 de novo EE-associated GABRB variants, o

SUBMITTER: Hernandez CC 

PROVIDER: S-EPMC10741827 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature