13-Jul-2026
Pathogenic GABRA1 variants: Functional and clinical insights
Compuscript Ltd
γ-Aminobutyric acid type A receptors (GABAARs) are the principal inhibitory neurotransmitter receptors in the mature central nervous system (CNS) that play essential roles in regulating neuronal excitability. The GABRA1 gene, which encodes the α1 subunit of the GABAARs, represents a critical nexus in CNS inhibitory neurotransmission. Pathogenic missense variants within this gene are predominantly associated with a spectrum of neurodevelopmental disorders, such as epilepsy, developmental delay, and neurodevelopmental encephalopathies. These pathogenic variants typically alter receptor function bidirectionally, resulting in either a gain-of-function (GOF) or a loss-of-function (LOF) phenotype.
- Journal
- Genes & Diseases
- Funder
- Canadian Institutes of Health Research (CIHR), Canada Project Grant, Shenzhen Medical Research Fund, Shenzhen Science and Technology Program, NSFC-Guangdong Joint Fund, Research Fund for International Scientists of National Natural Science Foundation of China, Partially funded by SANS-Shanghai Academy of Natural Sciences