Pathogenic variants of human GABRA1 gene associated with epilepsy: A computational approach.

ABSTRACT: Critical for brain development, neurodevelopmental and network disorders, the GABRA1 gene encodes for the α1 subunit, an abundantly and developmentally expressed subunit of heteropentameric gamma-aminobutyric acid A receptors (GABA_ARs) mediating primary inhibition in the brain. Mutations of the GABA_AR subunit genes including GABRA1 gene are associated with epilepsy, a group of syndromes, characterized by unprovoked seizures and diagnosed by integrative approach, that involves genetic testing. Despite the diagnostic use of genetic testing, a large fraction of the GABA_AR subunit gene variants including the variants of GABRA1 gene is not known in terms of their molecular consequence, a challenge for precision and personalized medicine. Addressing this, one hun

SUBMITTER: Arslan A 

PROVIDER: S-EPMC10559982 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature