rs121909674, GABRG2

N. diseases: 8
Disease: Epileptic encephalopathy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
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