Dec 25, 2024 · GABRA1 (Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha1) is a Protein Coding gene. Diseases associated with GABRA1 include Epilepsy, Idiopathic …

The GABRA1 gene provides instructions for making one piece, the alpha-1 (α1) subunit, of the GABA A receptor protein. Learn about this gene and related health conditions.

Gabra1 mutations significantly reduced surface expression of GABAARs in neurons and the alpha1A295D and alpha1T10'I mutations reduces expression in HEK293 cells. In addition, the …

GABRA1 encodes the α-subunit of the GABA-receptor, GABA being the most widespread inhibitory neurotransmitter of the human brain. GABRA1 was first described in patients with …

Feb 9, 2025 · GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of …

Sep 13, 2016 · GABRA1 mutations make a significant contribution to the genetic etiology of both benign and severe epilepsy syndromes. Myoclonic and tonic-clonic seizures with pathologic …

Jan 4, 2025 · Enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential. Contributes to GABA-gated chloride ion channel activity. …

GABRA1 is a rare neurological condition that causes seizures, movement disorders, sleep apnea, hypotonia, global developmental delays, heart conditions, visual processing delays, and …

Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype …

The GABRA1 gene, encoding the GABRAR subunit α1, plays vital roles in inhibitory neurons. Previously, the GABRA1 gene has been identified to be associated with developmental and …