A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy.

Objective: To detect mutations in GABRA1 in idiopathic generalized epilepsy.

Methods: GABRA1 was sequenced in 98 unrelated idiopathic generalized epilepsy patients. Patch clamping and confocal imaging was performed in transfected mammalian cells.

Association analysis between the human interleukin 1beta (-511) gene polymorphism and susceptibility to febrile convulsions.

Recently, an association between a regulatory polymorphism in the gene encoding the pro-inflammatory cytokine interleukin (IL)-1beta and febrile convulsions (FC) has been reported. In this study we attempted to confirm these findings in a sample consisting of 99 FC patients and 126 ethnically matched controls. Since about 3% of all FC patients experience unprovoked seizures (epilepsy) later during life we furthermore genotyped 43 patients with non-lesional temporal lobe epilepsy who reported a history of FC.