rs121909674, GABRG2

N. diseases: 8
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
FEBRILE CONVULSIONS, FAMILIAL, 8
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
0.700 CausalMutation CLINVAR
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.030 GeneticVariation BEFREE Based on these results we suggest that seizures in a genetic epilepsy syndrome caused by epilepsy mutant γ2(Q390X) subunits with dominant negative effects could be rescued potentially by overexpression of wild-type γ2 subunits. 28586508 2017
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
0.030 GeneticVariation BEFREE The mutant γ-aminobutyric acid type A (GABA<sub>A</sub> ) receptor γ2(Q390X) subunit (Q351X in the mature peptide) has been associated with the epileptic encephalopathy, Dravet syndrome, and the epilepsy syndrome genetic epilepsy with febrile seizures plus (GEFS+). 28586508 2017
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
0.030 GeneticVariation BEFREE Altered GABAA receptor expression in brainstem nuclei and SUDEP in Gabrg2(+/Q390X) mice associated with epileptic encephalopathy. 27131289 2016
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.030 GeneticVariation BEFREE Here we focused on three nonsense mutations in GABRG2 (GABRG2(R136*), GABRG2(Q390*) and GABRG2(W429*)) associated with epilepsies of different severities. 27762395 2016
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.030 GeneticVariation BEFREE These findings suggest that the fundamental protein metabolism and cellular consequences of the epilepsy-associated mutant γ2(Q390X) ion channel subunit are not fundamentally different from those associated with neurodegeneration. 26005849 2015
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
0.030 GeneticVariation BEFREE We have now developed a model of a severe human genetic epileptic encephalopathy, the Gabrg2(+/Q390X) knock-in mouse. 26005849 2015
Epileptic Syndromes
CUI: C4505072
Disease: Epileptic Syndromes
0.010 GeneticVariation BEFREE Based on these results we suggest that seizures in a genetic epilepsy syndrome caused by epilepsy mutant γ2(Q390X) subunits with dominant negative effects could be rescued potentially by overexpression of wild-type γ2 subunits. 28586508 2017
Seizures
CUI: C0036572
Disease: Seizures
0.010 GeneticVariation BEFREE The study indicated that regardless of other inflammatory factors, brief heat alone increased brain excitability and induced multiple types of seizures in Gabrg2<sup>+/Q390X</sup> mice, suggesting that mutations like GABRG2(Q390X) may alter brain thermal regulation and precipitate seizures during temperature elevations. 28505490 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.010 GeneticVariation BEFREE We found that synaptic GABAA receptors were reduced while intracellular nonfunctional γ2(Q390X) subunits were increased in the heterozygous DS and GEFS+ KI mice, but not in the heterozygous absence epilepsy KO mice. 27131289 2016
Infantile Severe Myoclonic Epilepsy
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
0.010 GeneticVariation BEFREE We found that synaptic GABAA receptors were reduced while intracellular nonfunctional γ2(Q390X) subunits were increased in the heterozygous DS and GEFS+ KI mice, but not in the heterozygous absence epilepsy KO mice. 27131289 2016
Absence Epilepsy
CUI: C0014553
Disease: Absence Epilepsy
0.010 GeneticVariation BEFREE We found that synaptic GABAA receptors were reduced while intracellular nonfunctional γ2(Q390X) subunits were increased in the heterozygous DS and GEFS+ KI mice, but not in the heterozygous absence epilepsy KO mice. 27131289 2016