Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/27495
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Type: Journal article
Title: Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy ?
Author: Tan, N.
Heron, S.
Scheffer, I.
Berkovic, S.
Mulley, J.
Citation: Epilepsia, 2005; 46(5):778-780
Publisher: Blackwell Publishing Inc
Issue Date: 2005
ISSN: 0013-9580
1528-1167
Statement of
Responsibility: 
Nigel C.K. Tan, Sarah E. Heron, Ingrid E. Scheffer, Samuel F. Berkovic, and John C. Mulley
Abstract: PURPOSE: gamma-Aminobutyric acid (GABA)-receptor genes are prime candidates for a role in seizure susceptibility. An association between the c.1465G-->A variant in the GABA(B) receptor 1 gene (GABBR1) and susceptibility to temporal lobe epilepsy (TLE) has been reported in an Italian cohort. We sought to replicate this association in an independent Australian cohort. METHODS: The 234 patients with TLE and 164 healthy controls were genotyped for the c.1465G-->A variant, by using inclusion criteria identical to those of the first study. RESULTS: The c.1465G-->A variant was found in one TLE patient and one control subject. Genotype and allele frequencies did not differ between groups. CONCLUSIONS: We did not replicate the reported associations between the c.1465G-->A variant and susceptibility to TLE. We suggest that the initial positive association may be due to undetected population stratification; the importance of genomic control is emphasized. Population-specific effects also may play a role, and we highlight the need to demonstrate an in vitro functional effect to give biologic meaning to any proposed association.
Keywords: Humans; Epilepsy, Temporal Lobe; Genetic Predisposition to Disease; Receptors, GABA-B; Genetic Markers; Cohort Studies; Reproducibility of Results; Genetics, Population; Age of Onset; Gene Frequency; Genotype; Polymorphism, Genetic; Cross-Cultural Comparison; Adolescent; Adult; European Continental Ancestry Group; Australia; Italy; Female; Male; Genetic Variation
Description: Copyright © 2005 International League Against Epilepsy
Provenance: Published Online: 27 Apr 2005
RMID: 0020050302
DOI: 10.1111/j.1528-1167.2005.49004.x
Appears in Collections:Molecular and Biomedical Science publications

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