GAT‐1 (rs2697153) and GAT‐3 (rs2272400) polymorphisms are associated with febrile seizures and temporal lobe epilepsy

ABSTRACT Aim : The purpose of this study was to determine a possible association between two GABA transporter (GAT) single‐nucleotide polymorphisms (SNPs), rs2697153 G>A in SLC6A1 (GAT‐1) and rs2272400 C>T in SLC6A11 (GAT ‐3), and drug‐resistant temporal lobe epilepsy (TLE). Methods : DNA was isolated from 138 TLE patients (from the neocortex) and 94 non‐epileptic controls (from blood/buccal swaps), and amplified by polymerase chain reaction and subjected to restriction fragment length polymorphism assays. A subgroup of patients with a positive history of febrile seizures (FS+) and traumatic brain injury (TBI+) were investigated in a separate analysis. P values were obtained using the Chi‐Square test and Fishers exact test. Results : The GAT‐1 SNP was different between patients and controls ( p <0.05); the AA genotype was observed in 40% of the cases vs 23% of the controls ( p <0.05). Thirty‐one patients were FS+ and the GAT‐3 CT genotype was observed significantly more frequently in the FS+ group (14%) than in the FS‐ group (1%; p <0.01). Thirteen patients were TBI+, and genotyping for GAT‐1 and GAT‐3 in these patients did not result in statistical differences between TBI+ and TBI‐ groups. Conclusions : The findings suggest that TLE is associated with GAT‐1 and GAT‐3 SNPs. More specifically, GAT‐3 c1572T seems to be associated with TLE in patients with FS+. However, the pathophysiological consequences of these SNPs remain to be elucidated.