Variant: rs1554100923 

    present in Gene: GABRG2
    present in Chromosome: 5
    Position on Chromosome: 162149212
    Alleles of this Variant: T/C

rs1554100923 in GABRG2 gene and Movement Disorders PMID 24407264 2014 A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.

PMID 12477709 2003 Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation.

PMID 20485450 2010 Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies.

PMID 28460589 2018 Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.

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 24480790 2014 Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy.

PMID 16924025 2006 A novel GABRG2 mutation associated with febrile seizures.

PMID 11326275 2001 Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.

PMID 25726841 2015 Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.

PMID 27340224 2016 Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsy.

PMID 11326274 2001 First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.

PMID 27066572 2015 Novel GABRG2 mutations cause familial febrile seizures.

PMID 11748509 2002 Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.

PMID 27864268 2017 De novo GABRG2 mutations associated with epileptic encephalopathies.

PMID 27899622 2017 UniProt: the universal protein knowledgebase.

PMID 27367160 2016 Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome.

rs1554100923 in GABRG2 gene and Muscle hypotonia 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 11326275 2001 Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.

PMID 25726841 2015 Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.

PMID 16924025 2006 A novel GABRG2 mutation associated with febrile seizures.

PMID 27340224 2016 Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsy.

PMID 11748509 2002 Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.

PMID 20485450 2010 Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies.

PMID 24480790 2014 Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy.

PMID 11326274 2001 First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.

PMID 12477709 2003 Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation.

PMID 24407264 2014 A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.

PMID 27367160 2016 Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome.

PMID 28460589 2018 Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.

PMID 27066572 2015 Novel GABRG2 mutations cause familial febrile seizures.

PMID 27899622 2017 UniProt: the universal protein knowledgebase.

PMID 27864268 2017 De novo GABRG2 mutations associated with epileptic encephalopathies.