The GABBR1 G1465A polymorphism is a risk marker for the development of mesial temporal lobe epilepsy with hippocampal sclerosis;El polimorfismo G1465A del gen GABBR1 es un marcador de riesgo para el desarrollo de epilepsia mesial temporal con esclerosis del hipocampo

Revista Neurologica Argentina

Volumn 31, Issue 1, 2006, Pages 25-31

  Kauffman, Marcelo A ^a   Consalvo, Damian ^a   Levy, Estrella M ^b   Papayannis, Cristina E ^a   Mordoh, Jose ^b   Kochen, Silvia S ^a  

^a HOSPITAL RAMOS MEJÍA   (Argentina)

^b Instituto Flemming   (Argentina)

Author keywords

Association study; Epilepsy; GABA; Genetic factors; Hippocampal sclerosis

Indexed keywords

4 AMINOBUTYRIC ACID B RECEPTOR; 4 AMINOBUTYRIC ACID B RECEPTOR 1; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; DISEASE COURSE; ELECTROENCEPHALOGRAM; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENOTYPE; HIPPOCAMPAL SCLEROSIS; HUMAN; MAJOR CLINICAL STUDY; NOCTURNAL SEIZURE; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RISK FACTOR; TEMPORAL LOBE EPILEPSY;

EID: 34249064960     PISSN: 03250938     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (34)

1. Wieser HG. ILAE Commission Report. Mesial temporal lobe epilepsy with hippocampal sclerosis. Epilepsia 2004; 45 (6): 695-714.
2. Kalachikov S, Evgrafov O, Ross B, Winawer M, Barker-Cummings C, Martinelli Boneschi F, et al. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet 2002; 30 (3): 335-41.
3. Briellmann RS, Torn-Broers Y, Jackson GD, Berkovic SF. Seizures in family members of patients with hippocampal sclerosis. Neurology 2001; 57 (10): 1800-4.
4. Kanemoto K, Kawasaki J, Yuasa S, Kumaki T, Tomohiro O, Kaji R, et al. Increased frequency of interleukin-1beta-511T allele in patients with temporal lobe epilepsy, hippocampal sclerosis, and prolonged febrile convulsion. Epilepsia 2003; 44 (6): 796-9.
5. Briellmann RS, Torn-Broers Y, Busuttil BE, Major BJ, Kalnins RM, Olsen M, et al. APOE epsilon4 genotype is associated with an earlier onset of chronic temporal lobe epilepsy. Neurology 2000; 55 (3): 435-7.
6. Stogmann E, Zimprich A, Baumgartner C, Aull-Watschinger S, Hollt V, Zimprich F. A functional polymorphism in the prodynorphin gene promotor is associated with temporal lobe epilepsy. Ann Neurol 2002; 51 (2): 260-3.
7. Buono RJ, Lohoff FW, Sander T, Sperling MR, O'Connor MJ, Dlugos DJ, et al. Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility. Epilepsy Res 2004; 58 (2-3): 175-83.
8. Walz R, Castro RM, Velasco TR, Alexandre V, Jr., Lopes MH, Leite JP, et al. Surgical outcome in mesial temporal sclerosis correlates with prion protein gene variant. Neurology 2003; 61 (9): 1204-10.
9. 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 (4): 560-3.
10. 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 (2): 141-5.
11. Anderson E, Berkovic S, Dulac O, Gardiner M, Jain S, Laue-Friis M, et al. ILAE Genetics Commission Conference Report: Molecular Analysis of Complex Genetic Epilepsies. Epilepsia 2002; 43 (10): 1262-1267.
12. 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 (1): 13.
13. 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 (5): 778-80.
14. 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.
15. Salzmann A, Moulard B, Crespel A, Baldy-Moulinier M, Buresi C, Malafosse A. GABAB Receptor 1 Polymorphism (G1465A) and Temporal Lobe Epilepsy. Epilepsia 2005; 46 (6): 931-933.
16. Chou IC, Tsai CH, Hsieh YY, Peng CT, Tsai FJ. Association between polymorphism of interleukin-1beta-511 promoter and susceptibility to febrile convulsions in Taiwanese children. Acta Paediatr 2003; 92 (11): 1356.
17. Consalvo D, Giobellina R, Silva W, Rugilo C, Saidon P, Schuster G, et al. [Mesial temporal sclerosis syndrome in adult patients]. Medicina (Buenos Aires) 2000; 60 (2):165-9.
18. Peters HC, Kammer G, Volz A, Kaupmann K, Ziegler A, Bettler B, et al. Mapping, genomic structure, and polymorphisms of the human GABABR1 receptor gene: evaluation of its involvement in idiopathic generalized epilepsy. Neurogenetics 1998; 2 (1): 47-54.
19. Johnson MM, Houck J, Chen C. Screening for deleterious nonsynonymous single-nucleotide polymorphisms in genes involved in steroid hormone metabolism and response. Cancer Epidemiol Biomarkers Prev 2005; 14(5): 1326-9.
20. Chukkapalli G, Guda C, Subramaniam S. SledgeHMMER: a web server for batch searching the Pfam database. Nucleic Acids Res 2004; 32 (Web Server issue): W542-4.
21. Bateman A, Coin L, Durbin R, Finn RD, Hollich V, Griffiths-Jones S, et al. The Pfam protein families database. Nucleic Acids Res 2004; 32 (Database issue): D138-41.
22. 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 (1): 47-58.
23. 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 (2-3): 121-36.
24. 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 (4): 975-84.
25. 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 (4): 909-17.
26. Martin SC, Steiger JL, Gravielle MC, Lyons HR, Russek SJ, Farb DH. Differential expression of gamma-aminobutyric acid type B receptor subunit mRNAs in the developing nervous system and receptor coupling to adenylyl cyclase in embryonic neurons. J Comp Neurol 2004; 473 (1): 16-29.
27. 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 (11): 1766-78.
28. 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 (9): 932-42.
29. Berkovic SF, Jackson GD. The hippocampal sclerosis whodunit: enter the genes. Ann Neurol 2000; 47 (5): 557-8.
30. Kobayashi E, Santos NF, Torres FR, Secolin R, Sardinha LA, Lopez-Cendes I, et al. Magnetic resonance imaging abnormalities in familial temporal lobe epilepsy with auditory auras. Arch Neurol 2003; 60 (11): 1546-51.
31. Ulloor J, Mavanji V, Saha S, Siwek DF, Datta S. Spontaneous REM Sleep Is Modulated By the Activation of the Pedunculopontine Tegmental GABAB Receptors in the Freely Moving Rat. J Neurophysiol 2004; 91 (4): 1822-1831.
32. Lewis CM. Genetic association studies: design, analysis and interpretation. Brief Bioinform 2002; 3 (2): 146-53.
33. Bird TD, Jarvik GP, Wood NW. Genetic association studies: Genes in search of diseases. Neurology 2001; 57 (7): 1153-1154.
34. 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 (5): 397-400.