Disease: Absence Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.130 GeneticVariation phenotype 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
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.130 Biomarker phenotype BEFREE Mutation screen of GABRA1, GABRB2 and GABRG2 genes in Japanese patients with absence seizures. 15955415 2005
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.130 GeneticVariation phenotype BEFREE Mutations in GABRA1, GABRG2, and GABRB3 are associated with absence seizures, while mutations in CLCN2 and myoclonin/EFHC1 substantiate juvenile myoclonic epilepsy as a clinical entity. 16302874 2005
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.130 Biomarker phenotype HPO