Gene: GABRA1

Alternate names for this Gene: DEE19|ECA4|EIEE19|EJM|EJM5

Gene Summary: This gene encodes a gamma-aminobutyric acid (GABA) receptor. 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 the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene.

Gene is located in Chromosome: 5

Location in Chromosome : 5q34

Description of this Gene: gamma-aminobutyric acid type A receptor subunit alpha1

Type of Gene: protein-coding

rs587777308 in GABRA1 gene and Dysmorphic features PMID 20551311 2010 GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors.

PMID 16718694 2006 A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy.

PMID 21714819 2011 Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 22190369 2011 Rare copy number variants are an important cause of epileptic encephalopathies.

PMID 11992121 2002 Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.

PMID 26918889 2016 De novo GABRA1 mutations in Ohtahara and West syndromes.

PMID 27521439 2016 Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

PMID 9126483 1997 Structure and organization of GABRB3 and GABRA5.

PMID 24623842 2014 GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

PMID 24811917 2014 Copy number variation plays an important role in clinical epilepsy.

rs121434579 in GABRA1 gene and EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 PMID 11992121 2002 Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.

PMID 27521439 2016 Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

PMID 24623842 2014 GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

PMID 26918889 2016 De novo GABRA1 mutations in Ohtahara and West syndromes.

PMID 21714819 2011 Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.

PMID 27353043 2016 Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.

rs587777307 in GABRA1 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

PMID 24623842 2014 GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

rs587777308 in GABRA1 gene and Epilepsy, Childhood Absence, Susceptibility To, 4 PMID 24623842 2014 GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

PMID 26918889 2016 De novo GABRA1 mutations in Ohtahara and West syndromes.

PMID 27521439 2016 Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

PMID 27353043 2016 Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.

rs587777308 in GABRA1 gene and Idiopathic generalized epilepsy PMID 26918889 2016 De novo GABRA1 mutations in Ohtahara and West syndromes.

PMID 24623842 2014 GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

PMID 27521439 2016 Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

PMID 27353043 2016 Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.

rs587777308 in GABRA1 gene and Muscle hypotonia PMID 21714819 2011 Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.

PMID 11992121 2002 Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.

PMID 16718694 2006 A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy.

PMID 27521439 2016 Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

PMID 9126483 1997 Structure and organization of GABRB3 and GABRA5.

PMID 24811917 2014 Copy number variation plays an important role in clinical epilepsy.

PMID 20551311 2010 GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors.

PMID 26918889 2016 De novo GABRA1 mutations in Ohtahara and West syndromes.

PMID 22190369 2011 Rare copy number variants are an important cause of epileptic encephalopathies.

PMID 24623842 2014 GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

rs587777308 in GABRA1 gene and Overgrowth PMID 20551311 2010 GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors.

PMID 9126483 1997 Structure and organization of GABRB3 and GABRA5.

PMID 26918889 2016 De novo GABRA1 mutations in Ohtahara and West syndromes.

PMID 24811917 2014 Copy number variation plays an important role in clinical epilepsy.

PMID 27521439 2016 Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

PMID 21714819 2011 Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.

PMID 22190369 2011 Rare copy number variants are an important cause of epileptic encephalopathies.

PMID 24623842 2014 GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 16718694 2006 A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy.

PMID 11992121 2002 Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.

rs587777308 in GABRA1 gene and Seizures PMID 24623842 2014 GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.