Mutations in GABAA receptor subunit genes (GABRs) are a major etiology for
developmental and epileptic encephalopathies (DEEs). This article reports a case of a …

Objective Variants in GABRA1 have been associated with a broad epilepsy spectrum,
ranging from genetic generalized epilepsies to developmental and epileptic …

Sex-specific differences may contribute to Alzheimer's disease (AD) development. AD is
more prevalent in women worldwide, and female sex has been suggested as a disease risk …

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 …

Genetic variants associated with developmental and epileptic encephalopathies have been
identified in the GABRB3 gene that encodes the β3 subunit of GABAA receptors. Typically …

Genetic sequencing is identifying an expanding number of variants of GABA A receptors
associated with human epilepsies. We identified a new de novo variant of the β2 subunit …

Mutation of the GABRA1 gene is associated with neurodevelopmental defects and epilepsy.
GABRA1 encodes for the α1 subunit of the γ-aminobutyric acid type A receptor (GABA AR) …

Mutation of the GABRA1 gene is associated with neurodevelopmental defects and epilepsy.
GABRA1 encodes for the α1 subunit of the gamma-aminobutyric acid type A receptor (GABA …

The GABRA1 gene encodes for the alpha-1 (α1) subunit of the Gamma-Aminobutyric acid
type A receptor (GABA AR), which are the primary modulators of synaptic inhibition in the …

Keywords: animal models of epilepsy; drug safety; epileptogenic activity; iatrogenic
diseases; medication errors; nonconvulsive status epilepticus; reactive seizures; …