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

Olaf E. M. G. Schijns, Jeroen Bisschop*, Kim Rijkers, Jim Dings, Sabina Vanherle, Patrick Lindsey, Hubert J. M. Smeets, Govert Hoogland

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

4 Citations (Web of Science)

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

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.

Original languageEnglish
Pages (from-to)176-182
Number of pages7
JournalEpileptic Disorders
Volume22
Issue number2
DOIs
Publication statusPublished - Apr 2020
EventAnnual Meeting of the European Association of Neurosurgical Societies (EANS) - Brussels, Belgium
Duration: 21 Oct 201825 Oct 2018

Keywords

  • GABA transporter
  • single nucleotide polymorphism
  • febrile seizures
  • temporal lobe epilepsy
  • HIPPOCAMPAL GABA
  • TRANSPORTER REVERSAL
  • ILAE COMMISSION
  • GENE-FUNCTION
  • GLUTAMATE
  • INHIBITION
  • SLC6A1
  • MECHANISMS
  • MUTATIONS
  • RECEPTORS

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