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

Seizure

Volumn 17, Issue 6, 2008, Pages 567-571

  Kauffman, Marcelo Andrés ^a   Levy, Estrella Mariel ^a   Consalvo, Damian ^a   Mordoh, José ^a   Kochen, Silvia ^a  

^a HOSPITAL RAMOS MEJÍA   (Argentina)

Author keywords

Genetics; Hippocampal sclerosis; Polymorphism; Temporal lobe epilepsy

Indexed keywords

4 AMINOBUTYRIC ACID RECEPTOR; PROTEIN GABABR1;

ADOLESCENT; ADULT; ARTICLE; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HIPPOCAMPAL SCLEROSIS; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; TEMPORAL LOBE EPILEPSY;

DNA MUTATIONAL ANALYSIS; EPILEPSY, TEMPORAL LOBE; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HIPPOCAMPUS; HUMANS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, GABA-B; RETROSPECTIVE STUDIES; SCLEROSIS;

EID: 48349101635     PISSN: 10591311     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.seizure.2007.12.006     Document Type: Article

References (25)

1. Andermann F., Kobayashi E., and Andermann E. Genetic focal epilepsies: state of the art and paths to the future. Epilepsia 46 Suppl 10 (2005) 61-67
2. Princivalle A.P., Duncan J.S., Thom M., and Bowery N.G. GABA(B1a), GABA(B1b) AND GABA(B2) mRNA variants expression in hippocampus resected from patients with temporal lobe epilepsy. Neuroscience 122 (2003) 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 60 (2003) 560-563
4. Stogmann E., Zimprich A., Baumgartner C., Gleiss A., and Zimprich F. Lack of association between a GABA receptor 1 gene polymorphism and temporal lobe epilepsy. Epilepsia 47 (2006) 437-439
5. Ma S., Abou-Khalil B., Sutcliffe J.S., Haines J.L., and Hedera P. The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures. BMC Med Genet 6 (2005) 13
6. Tan N.C., Heron S.E., Scheffer I.E., Berkovic S.F., and Mulley J.C. Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy?. Epilepsia 46 (2005) 778-780
7. Cavalleri G.L., Lynch J.M., Depondt C., Burley M.W., Wood N.W., Sisodiya S.M., et al. Failure to replicate previously reported genetic associations with sporadic temporal lobe epilepsy: where to from here?. Brain 128 (2005) 1832-1840
8. Salzmann A., Moulard B., Crespel A., Baldy-Moulinier M., Buresi C., and Malafosse A. GABA receptor 1 polymorphism (G1465A) and temporal lobe epilepsy. Epilepsia 46 (2005) 931-933
9. Ren L., Jin L., Zhang B., Jia Y., Wu L., and Shen Y. Lack of GABABR1 gene variation (G1465A) in a Chinese population with temporal lobe epilepsy. Seizure 14 (2005) 611-613
10. Colhoun H.M., McKeigue P.M., and Davey Smith G. Problems of reporting genetic associations with complex outcomes. Lancet 361 (2003) 865-872
11. Martinez Marignac V.L., Bertoni B., Parra E.J., and Bianchi N.O. Characterization of admixture in an urban sample from Buenos Aires, Argentina, using uniparentally and biparentally inherited genetic markers. Hum Biol 76 (2004) 543-557
12. Wang Y., Localio R., and Rebbeck T.R. Evaluating bias due to population stratification in case-control association studies of admixed populations. Genet Epidemiol 27 (2004) 14-20
13. Hattersley A.T., and McCarthy M.I. What makes a good genetic association study?. Lancet 366 (2005) 1315-1323
14. Lee W.C. Searching for disease-susceptibility loci by testing for Hardy-Weinberg disequilibrium in a gene bank of affected individuals. Am J Epidemiol 158 (2003) 397-400
15. Gyorffy B., Kocsis I., and Vasarhelyi B. Biallelic genotype distributions in papers published in Gut between 1998 and 2003: altered conclusions after recalculating the Hardy-Weinberg equilibrium. Gut 53 (2004) 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 31 (2001) 47-58
17. Brown J.T., Gill C.H., Farmer C.E., Lanneau C., Randall A.D., Pangalos M.N., et al. Mechanisms contributing to the exacerbated epileptiform activity in hippocampal slices of GABAB1 receptor subunit knockout mice. Epilepsy Res 57 (2003) 121-136
18. Furtinger S., Pirker S., Czech T., Baumgartner C., and Sperk G. Increased expression of gamma-aminobutyric acid type B receptors in the hippocampus of patients with temporal lobe epilepsy. Neurosci Lett 352 (2003) 141-145
19. Fernandez G., Effenberger O., Vinz B., Steinlein O., Elger C.E., Dohring W., et al. Hippocampal malformation as a cause of familial febrile convulsions and subsequent hippocampal sclerosis. Neurology 50 (1998) 909-917
20. Lopez-Bendito G., Lujan R., Shigemoto R., Ganter P., Paulsen O., and Molnar Z. Blockade of GABA(B) receptors alters the tangential migration of cortical neurons. Cereb Cortex 13 (2003) 932-942
21. Lopez-Bendito G., Shigemoto R., Kulik A., Paulsen O., Fairen A., and Lujan R. Expression and distribution of metabotropic GABA receptor subtypes GABABR1 and GABABR2 during rat neocortical development. Eur J Neurosci 15 (2002) 1766-1778
22. Princivalle A.P., Richards D.A., Duncan J.S., Spreafico R., and Bowery N.G. Modification of GABA(B1) and GABA(B2) receptor subunits in the somatosensory cerebral cortex and thalamus of rats with absence seizures (GAERS). Epilepsy Res 55 (2003) 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 88 (1999) 305-310
24. Urak L., Feucht M., Fathi N., Hornik K., and Fuchs K. A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity. Hum Mol Genet 15 (2006) 2533-2541
25. Chou I.C., Peng C.T., Huang C.C., Tsai J.J., Tsai F.J., and Tsai C.H. Association analysis of gamma 2 subunit of gamma-aminobutyric acid type A receptor polymorphisms with febrile seizures. Pediatr Res 54 (2003) 26-29