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
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.
|Number of pages||7|
|Publication status||Published - Apr 2020|
|Event||Annual Meeting of the European Association of Neurosurgical Societies (EANS) - Brussels, Belgium|
Duration: 21 Oct 2018 → 25 Oct 2018
- GABA transporter
- single nucleotide polymorphism
- febrile seizures
- temporal lobe epilepsy
- HIPPOCAMPAL GABA
- TRANSPORTER REVERSAL
- ILAE COMMISSION