Dec 25, 2024 · GABRA1 (Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha1) is a Protein Coding gene. Diseases associated with GABRA1 include Epilepsy, Idiopathic Generalized 13 and Developmental And Epileptic Encephalopathy 19. Among its related pathways are Transmission across Chemical Synapses and GABA B receptor activation.

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 alpha1D192N and alpha1T10'I mutations significantly accelerated 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 mild genetic generalized epilepsy (JME), but since the phenotypic spectrum has expanded considerably to encompass more severe epilepsy forms, such as Dravet Syndrome.

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 these channels can be modulated by agents such as benzodiazepines that bind to …

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 response to photic stimulation are common and shared features in …

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. Involved in inhibitory synapse assembly. Located in plasma membrane. Is active in …

GABRA1 is a rare neurological condition that causes seizures, movement disorders, sleep apnea, hypotonia, global developmental delays, heart conditions, visual processing delays, and intellectual disabilities. Some are unable to walk, require 24/7 care, and many are non-verbal.

Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation . GABRA1 and GABRA6 gene mutations in idiopathic generalized epilepsy patients . SAHA enhances Proteostasis of epilepsy-associated α1(A322D)β2γ2 GABA(A ...

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 epileptic encephalopathy (DEE) and idiopathic generalized epilepsy ...