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 is...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Epileptic disorders 2020-04, Vol.22 (2), p.176-182
Hauptverfasser: Schijns, Olaf EMG, Bisschop, Jeroen, Rijkers, Kim, Dings, Jim, Vanherle, Sabina, Lindsey, Patrick, Smeets, Hubert JM, Hoogland, Govert
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung: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
ISSN:1294-9361
1950-6945
DOI:10.1684/epd.2020.1154