Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2
0.400 GeneticVariation disease BEFREE It has been established that febrile seizures and its extended syndromes like generalized epilepsy with febrile seizures (FS) plus (GEFS+) and Dravet syndrome have been associated with mutations especially in SCN1A and GABRG2 genes. 28505490 2017
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2
0.400 GeneticVariation disease BEFREE Mutations in GABA<sub>A</sub> receptor subunit genes are frequently associated with epilepsy, and nonsense mutations in GABRG2 are associated with several epilepsy syndromes including childhood absence epilepsy, generalized tonic clonic seizures and the epileptic encephalopathy, Dravet syndrome. 27762395 2016
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2
0.400 GeneticVariation disease BEFREE The Gabrg2(+/Q390X) knockin (KI) mouse phenocopies the major features of DS and GEFS+ and has SUDEP throughout life. 27131289 2016
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2
0.400 GeneticVariation disease BEFREE Mutations in GABRG2 have been associated with simple febrile seizures and with genetic epilepsy syndromes, including childhood absence epilepsy, generalized epilepsy with febrile seizures plus, and Dravet syndrome or severe myoclonic epilepsy in infancy. 27367160 2016
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2
0.400 GeneticVariation disease BEFREE Our findings suggested that different phenotypes of epilepsy, e.g., GEFS+ and Dravet syndrome (which share similar abnormalities in causative genes) are likely due to impaired axonal transport associated with the dominant-negative effects of GABRG2. 24480790 2014
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2
0.400 GeneticVariation disease BEFREE Many GABRG2 truncation mutations result in GEFS+, but the spectrum of phenotypic severity is wider, ranging from asymptomatic individuals to the Dravet syndrome. 23069679 2013
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2
0.400 GermlineCausalMutation disease ORPHANET Dravet syndrome: a genetic epileptic disorder. 23093055 2012
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2
0.400 GeneticVariation disease BEFREE The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through. 22750526 2012
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2
0.400 GeneticVariation disease BEFREE Dravet syndrome is caused mainly by mutations of voltage-gated Na(+) channels (most of them targeting Na(V) 1.1) and in few cases by mutations of γ-aminobutyric acid (GABA)(A) receptor γ2 subunit. 21463283 2011
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2
0.400 GermlineCausalMutation disease ORPHANET The genetics of Dravet syndrome. 21463275 2011
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2
0.400 Biomarker disease BEFREE Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME), pure febrile seizures (FS), generalized epilepsy with febrile seizures plus (GEFS+), and Dravet syndrome (DS)/severe myoclonic epilepsy in infancy (SMEI). 20308251 2010
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2
0.400 Biomarker disease BEFREE Genetic analysis of GABRG2 was performed on 140 Japanese patients with various childhood epilepsies largely including Dravet syndrome and genetic epilepsy with febrile seizures plus. 20485450 2010
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2
0.400 GeneticVariation disease BEFREE We screened for mutations of SCN1A, SCN2A and GABRG2 (the gene encoding gamma2 subunit of the GABA(A) receptor) in 59 patients with Dravet syndrome and found 29 SCN1A mutations and three missense SCN2A mutations. 19783390 2009
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2
0.400 Biomarker disease BEFREE Our study demonstrates that GABRG2 is not a commonly involved in the etiology of SMEI and suggests that other and yet unidentified genes are involved in the syndrome 12694927 2003
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2
0.400 Biomarker disease BEFREE In order to further investigate the role of SCN1A and GABRG2 in the pathogenesis of SMEI we have screened for mutations three families with at least two members affected by Dravet syndrome. 12773292 2003
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2
0.400 Biomarker disease BEFREE To investigate the possible correlation between genotype and phenotype of epilepsy, we analyzed the voltage-gated sodium channel alpha1-subunit (SCN1A) gene, beta1-subunit (SCN1B) gene, and gamma-aminobutyric acid(A) receptor gamma2-subunit (GABRG2) gene in DNAs from peripheral blood cells of 29 patients with severe myoclonic epilepsy in infancy (SME) and 11 patients with other types of epilepsy. 12083760 2002
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2
0.400 GermlineCausalMutation disease ORPHANET Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. 11748509 2002