Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy

Epilepsy Research

Volumn 51, Issue 3, 2002, Pages 249-255

  Sander, Thomas ^a,c   Toliat, Mohammad Reza ^c   Heils, Armin ^d   Leschik, Gundula ^b   Becker, Christian ^c   Rüschendorf, Franz ^c,d   Rohde, Klaus ^c   Mundlos, Stefan ^b   Nürnberg, Peter ^b,c  

^a HUMBOLDT UNIVERSITY   (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^d UNIVERSITY OF BONN   (Germany)

Author keywords

Anion exchanger AE3; Chromosome 2; Idiopathic generalized epilepsy; Mutation analysis

Indexed keywords

ANION EXCHANGER 3 PROTEIN; ANTIPORTER; UNCLASSIFIED DRUG;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ARTICLE; CHROMOSOME 2Q; CONTROLLED STUDY; EPILEPTOGENESIS; EXON; GENE EXPRESSION; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENE MUTATION; GENERALIZED EPILEPSY; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENOTYPE; GERMANY; HUMAN; IDIOPATHIC DISEASE; INTRON; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ALLELES; ANTIPORTERS; CHI-SQUARE DISTRIBUTION; DNA MUTATIONAL ANALYSIS; EPILEPSY, GENERALIZED; EXONS; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INTRONS; LINKAGE DISEQUILIBRIUM; LOD SCORE; POLYMORPHISM, SINGLE NUCLEOTIDE; VARIATION (GENETICS);

EID: 0036774137     PISSN: 09201211     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0920-1211(02)00152-3     Document Type: Article

References (27)

1. Alderborn A., Kristofferson A., Hammerling U. Determination of single-nucleotide polymorphisms by real-time pyrophosphate DNA sequencing. Genome Res. 10:2000;1249-1258.
2. Avoli M., Rogawski M.A., Avanzini G. Generalized epileptic disorders: an update. Epilepsia. 42:2001;445-457.
3. Commission on Classification and Terminology of the International League Against Epilepsy, 1989. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 30, 389-399.
4. Cox G.A., Lutz C.M., Yang C.L., Biemesderfer D., Bronson R.T., Fu A., Aronson P.S., Noebels J.L., Frankel W.N. Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice. Cell. 91:1997;139-148.
5. Durner M., Keddache M.A., Tomasini L., Shinnar S., Resor S.R., Cohen J., Harden C., Moshe S.L., Rosenbaum D., Kang H., Ballaban-Gil K., Hertz S., Labar D.R., Luciano D., Wallace S., Yohai D., Klotz I., Dicker E., Greenberg D.A. Genome scan of idiopathic generalized epilepsy: evidence for major susceptibility gene and modifying genes influencing the seizure type. Ann. Neurol. 49:2001;328-335.
6. Einum D.D., Zhang J., Arneson P.J., Menon A.G., Ptacek L.J. Genomic structure of human anion exchanger 3 and its potential role in hereditary neurological disease. Neurogenetics. 1:1998;289-292.
7. Everitt A.D., Sander J.W. Classification of the epilepsies: time for a change? A critical review of the International Classification of the Epilepsies and Epileptic Syndromes (ICEES) and its usefulness in clinical practice and epidemiological studies of epilepsy. Eur. Neurol. 42:1999;1-10.
8. Freitag C.M., May T.W., Pfafflin M., Konig S., Rating D. Incidence of epilepsies and epileptic syndromes in children and adolescents: a population-based prospective study in Germany. Epilepsia. 42:2001;979-985.
9. Gardiner R.M. Impact of our understanding of the genetic aetiology of epilepsy. J. Neurol. 247:2000;327-334.
10. Gerlai R. Gene-targeting studies of mammalian behavior: is it the mutation or the background genotype? Trends Neurosci. 19:1996;177-181.
11. Greenberg D.A., Durner M., Delgado-Escueta A.V. Evidence for multiple gene loci in the expression of the common generalized epilepsies. Neurology. 42:1992;56-62.
12. Hauser, W.A., Annegers, J.F., Rocca, W.A., 1996. Descriptive epidemiology of epilepsy: contributors of population-based studies from Rochester, Minnesota. Mayo Clin. Proc. 71, 576-586.
13. Kopito R.R., Lee B.S., Simmons D.M., Lindsey A.E., Morgans C.W., Schneider K. Regulation of intracellular pH by a neuronal homolog of the erythrocyte anion exchanger. Cell. 59:1989;927-937.
14. Lander E.S., Schork N.J. Genetic dissection of complex. Science. 265:1994;2037-2048.
15. Lerche H., Jurkat-Rott K., Lehmann-Horn F. Ion channels and epilepsy. Am. J. Med. Genet. 106:2001;146-159.
16. Matsuo H., Kamakura K., Matsushita S., Ohmori T., Okano M., Tadano Y., Tsuji S., Higuchi S. Mutational analysis of the anion exchanger 3 gene in familial paroxysmal dystonic choreoathetosis linked to chromosome 2q. Am. J. Med. Genet. 88:1999;733-737.
17. Meisler M.H., Kearney J., Ottman R., Escayg A. Identification of epilepsy genes in human and mouse. Annu. Rev. Genet. 35:2001;567-588.
18. Miller S.A., Dykes D.D., Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16:1988;1215.
19. Reich D.E., Lander E.S. On the allelic spectrum of human disease. Trends Genet. 17:2001;502-510.
20. Roberts S.B., MacLean C.J., Neale M.C., Eaves L.J., Kendler K.S. Replication of linkage studies of complex traits: an examination of variation in location estimates. Am. J. Hum. Genet. 65:1999;876-884.
21. Rohde K., Fuerst R. Haplotyping and estimation of haplotype frequencies for closely linked biallelic multilocus genetic phenotypes including nuclear family information. Hum. Mutat. 17:2001;289-295.
22. Sander T., Schulz H., Saar K., Gennaro E., Riggio M.C., Bianchi A., Zara F., Luna D., Bulteau C., Kaminska A., Ville D., Cieuta C., Picard F., Prud'homme J.F., Bate L., Sundquist A., Gardiner R.M., Janssen G.A., de Haan G.J., Kasteleijn N.T.D., Bader A., Lindhout D., Riess O., Wienker T.F., Janz D., Reis A. Genome search for susceptibility loci of common idiopathic generalised epilepsies. Hum. Mol. Genet. 9:2000;1465-1472.
23. SAS Institute Inc. SAS/STAT User's Guide, Release 6.03 Edition. 6.03. 1988. Cary, NC, SAS Institute.
24. Spielman R.S., Ewens W.J. The TDT and other family-based tests for linkage disequilibrium and association. Am. J. Hum. Genet. 59:1996;983-989.
25. Sterling D., Casey J.R. Transport activity of AE3 chloride/bicarbonate anion-exchange proteins and their regulation by intracellular pH. Biochem. J. 344:1999;221-229.
26. Su Y.R., Klanke C.A., Houseal T.W., Linn S.C., Burk S.E., Varvil T.S., Otterud B.E., Shull G.E., Leppert M.F., Menon A.G. Molecular cloning and physical and genetic mapping of the human anion exchanger isoform 3 (SLC2C) gene to chromosome 2q36. Genomics. 22:1994;605-609.
27. Yannoukakos D., Vasseur C., Blouquit Y., Bursaux E., Wajcman H. Primary structure of the cytoplasmic domain of human erythrocyte protein band 3. Comparison with its sequence in the mouse. Biochim. Biophys. Acta. 998:1989;43-49.