Objective γ‐Aminobutyric acid (GABA) A‐receptor subunit variants have recently been
associated with neurodevelopmental disorders and/or epilepsy. The phenotype linked with …

Normal brain function requires a tightly regulated balance between excitatory and inhibitory
neurotransmissions. γ‐Aminobutyric acid type A (GABAA) receptors represent the major …

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 …

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 in the SLC6A1 gene can cause a broad phenotypic disease spectrum by
altering the protein function. Thus, systematically curated clinically relevant genotype …

Background Phenotypic variability within families with epilepsy is often observed, even
when relatives share the same monogenic cause. We aimed to investigate whether common …

Febrile seizures (FS) are the most common form of epilepsy in children between six months
and five years of age. FS is a self-limited type of fever-related seizure. However, complicated …

Recent advances in AI-based methods have revolutionized the field of structural biology.
Concomitantly, high-throughput sequencing and functional genomics have generated …

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

Drugs that modulate the GABAA receptor are widely used in clinical practice for both the
long-term management of epilepsy and emergency seizure control. In addition to older …