Variant: rs587777308 

    present in Gene: GABRA1
    present in Chromosome: 5
    Position on Chromosome: 161873196
    Alleles of this Variant: G/A

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.

rs587777308 in GABRA1 gene and EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 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.

rs587777308 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.

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.

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.