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

doi:10.1684/epd.2020.1154

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 journal › Article › Academic › peer-review

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 language	English
Pages (from-to)	176-182
Number of pages	7
Journal	Epileptic Disorders
Volume	22
Issue number	2
DOIs	https://doi.org/10.1684/epd.2020.1154
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

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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title = "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 (pConclusions. 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.",

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",

author = "Schijns, \{Olaf E. M. G.\} and Jeroen Bisschop and Kim Rijkers and Jim Dings and Sabina Vanherle and Patrick Lindsey and Smeets, \{Hubert J. M.\} and Govert Hoogland",

note = "Publisher Copyright: {\textcopyright} 2020 Epileptic Disorders; Annual Meeting of the European Association of Neurosurgical Societies (EANS) ; Conference date: 21-10-2018 Through 25-10-2018",

year = "2020",

month = apr,

doi = "10.1684/epd.2020.1154",

language = "English",

volume = "22",

pages = "176--182",

journal = "Epileptic Disorders",

issn = "1294-9361",

publisher = "John Wiley \& Sons Inc.",

number = "2",

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TY - JOUR

T1 - GAT-1 (rs2697153) and GAT-3 (rs2272400) polymorphisms are associated with febrile seizures and temporal lobe epilepsy

AU - Schijns, Olaf E. M. G.

AU - Bisschop, Jeroen

AU - Rijkers, Kim

AU - Dings, Jim

AU - Vanherle, Sabina

AU - Lindsey, Patrick

AU - Smeets, Hubert J. M.

AU - Hoogland, Govert

PY - 2020/4

Y1 - 2020/4

N2 - 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 (pConclusions. 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.

AB - 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 (pConclusions. 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.

KW - GABA transporter

KW - single nucleotide polymorphism

KW - febrile seizures

KW - temporal lobe epilepsy

KW - HIPPOCAMPAL GABA

KW - TRANSPORTER REVERSAL

KW - ILAE COMMISSION

KW - GENE-FUNCTION

KW - GLUTAMATE

KW - INHIBITION

KW - SLC6A1

KW - MECHANISMS

KW - MUTATIONS

KW - RECEPTORS

U2 - 10.1684/epd.2020.1154

DO - 10.1684/epd.2020.1154

M3 - Article

C2 - 32301730

SN - 1294-9361

VL - 22

SP - 176

EP - 182

JO - Epileptic Disorders

JF - Epileptic Disorders

IS - 2

T2 - Annual Meeting of the European Association of Neurosurgical Societies (EANS)

Y2 - 21 October 2018 through 25 October 2018

ER -

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

Abstract

Keywords

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