| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure. | 25730860 | 2015 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes. | 25726841 | 2015 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. | 23708187 | 2013 |
|||
|
0.040 | GeneticVariation | BEFREE | The GABRG2 588 C > T polymorphism may decrease the duration of seizures in JME patients. | 29785705 | 2018 |
||||
|
0.040 | GeneticVariation | BEFREE | A significant association was found with the TT homozygous genotype and T allele for both febrile seizures and epilepsy for the C588T locus, while GABRG2 G>A 3145 showed no significant association with any type of seizure. | 29379546 | 2018 |
||||
|
0.040 | GeneticVariation | BEFREE | One hundred twenty-seven cases of seizure (86 GS and 41 FS) patients were analyzed for MDR1 C3435T and GABRG2 C588T gene polymorphisms using restriction fragment length polymorphism-polymerase chain reaction.Serum PHT levels were analyzed. | 22239287 | 2012 |
||||
|
0.040 | GeneticVariation | BEFREE | The aim of our study was to find out the possible role of single nucleotide polymorphisms (SNPs) present in GABRA1 IVS11+15 A>G (rs2279020) and GABRG2 588C>T (rs211037) genes in seizure susceptibility and pharmaco-resistance in northern Indian patients with epilepsy. | 20356767 | 2010 |
||||
|
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 |
||||
|
0.010 | GeneticVariation | BEFREE | In the present study, the brain uptake of diazepam and phenytoin was assessed in a genetic mouse model of absence seizures harbouring a human GABA(A) receptor gamma2-subunit gene GABRG2 mutation (R43Q) and results were compared with those obtained during acute seizures induced by subcutaneous administration of pentylenetetrazole (PTZ; 90 mg/kg). | 20082623 | 2010 |