Seizure: European Journal of Epilepsy
Volume 17, Issue 6 , Pages 567-571 , September 2008

GABABR1 (G1465A) gene variation and temporal lobe epilepsy controversy: New evidence

Received 3 January 2007 ,Revised 23 July 2007 ,Accepted 19 December 2007.

References 

  1. Andermann F, Kobayashi E, Andermann E. Genetic focal epilepsies: state of the art and paths to the future. Epilepsia. 2005;46(Suppl 10):61–67
  2. Princivalle AP, Duncan JS, Thom M, Bowery NG. GABA(B1a), GABA(B1b) AND GABA(B2) mRNA variants expression in hippocampus resected from patients with temporal lobe epilepsy. Neuroscience. 2003;122:975–984
  3. Gambardella A, Manna I, Labate A, Chifari R, La Russa A, Serra P, et al. GABA(B) receptor 1 polymorphism (G1465A) is associated with temporal lobe epilepsy. Neurology. 2003;60:560–563
  4. Stogmann E, Zimprich A, Baumgartner C, Gleiss A, Zimprich F. Lack of association between a GABA receptor 1 gene polymorphism and temporal lobe epilepsy. Epilepsia. 2006;47:437–439
  5. Ma S, Abou-Khalil B, Sutcliffe JS, Haines JL, Hedera P. The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures. BMC Med Genet. 2005;6:13
  6. Tan NC, Heron SE, Scheffer IE, Berkovic SF, Mulley JC. Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy?. Epilepsia. 2005;46:778–780
  7. Cavalleri GL, Lynch JM, Depondt C, Burley MW, Wood NW, Sisodiya SM, et al. Failure to replicate previously reported genetic associations with sporadic temporal lobe epilepsy: where to from here?. Brain. 2005;128:1832–1840
  8. Salzmann A, Moulard B, Crespel A, Baldy-Moulinier M, Buresi C, Malafosse A. GABA receptor 1 polymorphism (G1465A) and temporal lobe epilepsy. Epilepsia. 2005;46:931–933
  9. Ren L, Jin L, Zhang B, Jia Y, Wu L, Shen Y. Lack of GABABR1 gene variation (G1465A) in a Chinese population with temporal lobe epilepsy. Seizure. 2005;14:611–613
  10. Colhoun HM, McKeigue PM, Davey Smith G. Problems of reporting genetic associations with complex outcomes. Lancet. 2003;361:865–872
  11. Martinez Marignac VL, Bertoni B, Parra EJ, Bianchi NO. Characterization of admixture in an urban sample from Buenos Aires, Argentina, using uniparentally and biparentally inherited genetic markers. Hum Biol. 2004;76:543–557
  12. Wang Y, Localio R, Rebbeck TR. Evaluating bias due to population stratification in case-control association studies of admixed populations. Genet Epidemiol. 2004;27:14–20
  13. Hattersley AT, McCarthy MI. What makes a good genetic association study?. Lancet. 2005;366:1315–1323
  14. Lee WC. Searching for disease-susceptibility loci by testing for Hardy-Weinberg disequilibrium in a gene bank of affected individuals. Am J Epidemiol. 2003;158:397–400
  15. Gyorffy B, Kocsis I, Vasarhelyi B. Biallelic genotype distributions in papers published in Gut between 1998 and 2003: altered conclusions after recalculating the Hardy–Weinberg equilibrium. Gut. 2004;53:614–615[author reply 615-616]
  16. Schuler V, Luscher C, Blanchet C, Klix N, Sansig G, Klebs K, et al. Epilepsy, hyperalgesia, impaired memory, and loss of pre- and postsynaptic GABA(B) responses in mice lacking GABA(B(1)). Neuron. 2001;31:47–58
  17. Brown JT, Gill CH, Farmer CE, Lanneau C, Randall AD, Pangalos MN, et al. Mechanisms contributing to the exacerbated epileptiform activity in hippocampal slices of GABAB1 receptor subunit knockout mice. Epilepsy Res. 2003;57:121–136
  18. Furtinger S, Pirker S, Czech T, Baumgartner C, Sperk G. Increased expression of gamma-aminobutyric acid type B receptors in the hippocampus of patients with temporal lobe epilepsy. Neurosci Lett. 2003;352:141–145
  19. Fernandez G, Effenberger O, Vinz B, Steinlein O, Elger CE, Dohring W, et al. Hippocampal malformation as a cause of familial febrile convulsions and subsequent hippocampal sclerosis. Neurology. 1998;50:909–917
  20. Lopez-Bendito G, Lujan R, Shigemoto R, Ganter P, Paulsen O, Molnar Z. Blockade of GABA(B) receptors alters the tangential migration of cortical neurons. Cereb Cortex. 2003;13:932–942
  21. Lopez-Bendito G, Shigemoto R, Kulik A, Paulsen O, Fairen A, Lujan R. Expression and distribution of metabotropic GABA receptor subtypes GABABR1 and GABABR2 during rat neocortical development. Eur J Neurosci. 2002;15:1766–1778
  22. Princivalle AP, Richards DA, Duncan JS, Spreafico R, Bowery NG. Modification of GABA(B1) and GABA(B2) receptor subunits in the somatosensory cerebral cortex and thalamus of rats with absence seizures (GAERS). Epilepsy Res. 2003;55:39–51
  23. Sander T, Peters C, Kammer G, Samochowiec J, Zirra M, Mischke D, et al. Association analysis of exonic variants of the gene encoding the GABAB receptor and idiopathic generalized epilepsy. Am J Med Genet. 1999;88:305–310
  24. Urak L, Feucht M, Fathi N, Hornik K, Fuchs K. A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity. Hum Mol Genet. 2006;15:2533–2541
  25. Chou IC, Peng CT, Huang CC, Tsai JJ, Tsai FJ, Tsai CH. Association analysis of gamma 2 subunit of gamma-aminobutyric acid type A receptor polymorphisms with febrile seizures. Pediatr Res. 2003;54:26–29

PII: S1059-1311(08)00007-1

doi: 10.1016/j.seizure.2007.12.006

Seizure: European Journal of Epilepsy
Volume 17, Issue 6 , Pages 567-571 , September 2008