Lack of Association Between a GABA Receptor 1 Gene Polymorphism and Temporal Lobe Epilepsy

Epilepsia. 2006 Feb;47(2):437-9. doi: 10.1111/j.1528-1167.2006.00441.x.


Purpose: Recently a coding nonsynonymous single-nucleotide polymorphism (SNP; G1465A) in the GABBR1 gene was reported to be associated with the incidence and severity of temporal lobe epilepsy (TLE). To clarify the role of this polymorphism in TLE, we attempted to replicate this study.

Methods: We genotyped 188 unrelated patients with TLE (110 women, 78 men) and 259 controls of middle European descent by a restriction-length polymerase chain reaction (PCR) assay.

Results: Only two (0.5%) patients and none of the controls exhibited the heterozygous A/G genotype, which was previously reported to be overrepresented among patients as compared with controls.

Conclusions: Although our study was sufficiently powered, we could not replicate the original association. Potential reasons for this failure could lie in subtle genetic differences between the studied populations or differences in the TLE phenotypes.

Publication types

  • Comparative Study

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Epilepsy, Temporal Lobe / genetics*
  • European Continental Ancestry Group / genetics
  • Female
  • Gene Frequency
  • Genetic Carrier Screening
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Polymerase Chain Reaction / statistics & numerical data
  • Polymorphism, Single Nucleotide* / genetics
  • Receptors, GABA-B / genetics*
  • Reproducibility of Results
  • Research Design / standards
  • Restriction Mapping / statistics & numerical data


  • GABA type B receptor, subunit 1
  • Receptors, GABA-B