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https://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: | <h4>Purpose</h4>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.<h4>Methods</h4>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.<h4>Results</h4>The c.1465G-->A variant was found in one TLE patient and one control subject. Genotype and allele frequencies did not differ between groups.<h4>Conclusions</h4>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 Australia Italy Female Male Genetic Variation White People |
Description: | Copyright © 2005 International League Against Epilepsy |
Provenance: | Published Online: 27 Apr 2005 |
DOI: | 10.1111/j.1528-1167.2005.49004.x |
Published version: | http://dx.doi.org/10.1111/j.1528-1167.2005.49004.x |
Appears in Collections: | Aurora harvest 6 Molecular and Biomedical Science publications |
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