GABRB3 is highly expressed early in the developing brain, and its encoded β3 subunit is
critical for GABAA receptor assembly and trafficking as well as stem cell differentiation in …

Many patients with developmental and epileptic encephalopathies present with variants in
genes coding for GABAA receptors. These variants are presumed to cause loss-of-function …

Epileptic encephalopathies are a devastating group of severe childhood onset epilepsies
with medication-resistant seizures and poor developmental outcomes. Many epileptic …

We compared the effects of three missense mutations in the GABA A receptor γ2 subunit on
GABA A receptor assembly, trafficking and function in HEK293T cells cotransfected with α1 …

We performed next generation sequencing on 1696 patients with epilepsy and intellectual
disability using a gene panel with 480 epilepsy-related genes including all GABAA receptor …

Objective In this review article, we focus on the molecular pathogenic basis for genetic
generalized epilepsies associated with mutations in the inhibitory γ-aminobutyric acid …

GABAA receptors are ligand-gated anion channels that are important regulators of neuronal
inhibition. Mutations in several genes encoding receptor subunits have been identified in …

Objective The Epi4K Consortium recently identified 4 de novo mutations in the γ‐
aminobutyric acid type A (GABAA) receptor β3 subunit gene GABRB3 and 1 in the β1 …

Objective: To examine the role of mutations in GABRB3 encoding the β3 subunit of the
GABAA receptor in individual patients with epilepsy with regard to causality, the spectrum of …

Genetic epilepsy is a common disorder with phenotypic variation, but the basis for the
variation is unknown. Comparing the molecular pathophysiology of mutations in the same …