Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy?

Abstract

Purpose: γ-Aminobutyric acid (GABA)-receptor genes are prime candidates for a role in seizure susceptibility. An association between the c.1465G→A variant in the GABA(B) receptor 1 gene (GABBR1) and susceptibility to temporal lobe epilepsy (TLE) has been reported in an Italian cohort. We sought to replicate this association in an independent Australian cohort. Methods: The 234 patients with TLE and 164 healthy controls were genotyped for the c.1465G→A variant, by using inclusion criteria identical to those of the first study. Results: The c.1465G→A variant was found in one TLE patient and one control subject. Genotype and allele frequencies did not differ between groups. Conclusions: We did ..