Disease: Absence Seizures ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909673
rs121909673
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2
CUI: C4316903
Disease:
Absence Seizures 		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