GABRA3 encodes the alpha3 subunit of the GABA type A receptor, a heteropentameric ligand-gated chloride channel fundamental to GABAergic inhibitory neurotransmission in the brain 12. The alpha3 subunit assembles with four other subunits around a central pore, with GABA binding sites located at alpha-beta subunit interfaces. GABA activation allows chloride anion influx across the postsynaptic membrane, hyperpolarizing neurons and reducing action potential generation, thereby suppressing nerve transmission 12. GABRA3 is located on chromosome X and is primarily expressed in adult brain tissue 3. Pathogenic GABRA3 variants cause X-linked epilepsy with variable phenotypes depending on functional consequence 4. Gain-of-function variants produce severe, treatment-resistant epilepsy with profound intellectual disability disproportionately affecting males, while loss-of-function variants yield milder behavioral and language phenotypes with minimal seizures 4. Beyond neurology, GABRA3 expression is aberrantly activated in breast cancer where it promotes AKT-mediated metastasis, though A-to-I mRNA editing suppresses this pro-invasive activity 5. GABRA3 also regulates social feeding behavior in C. elegans through conserved autism-associated pathways 6. Recent evidence suggests GABRA3 involvement in cardiovascular disease pathogenesis through phthalate-induced toxicity mechanisms 7.