A functional polymorphism in the SCN1A gene is not associated with carbamazepine dosages in Austrian patients with epilepsy

Epilepsia

Volumn 49, Issue 6, 2008, Pages 1108-1109

  Zimprich, Fritz ^a   Stogmann, Elisabeth ^a   Bonelli, Silvia ^a   Baumgartner, Christoph ^a   Mueller, Jakob C ^b   Meitinger, Thomas ^c,d   Zimprich, Alexander ^a   Strom, Tim M ^c,d  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b MAX PLANCK INSTITUTE FOR ORNITHOLOGY   (Germany)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

^d TECHNICAL UNIVERSITY OF MUNICH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMAZEPINE; DEOXYRIBONUCLEOTIDE; MESSENGER RNA; PHENYTOIN; VOLTAGE DEPENDENT ANION CHANNEL 1; VOLTAGE-DEPENDENT ANION CHANNEL 1A;

ALLELE; DISEASE SEVERITY; DNA POLYMORPHISM; DNA SPLICING; EPILEPSY; EXON; GENETIC ASSOCIATION; GENETIC CORRELATION; GENETIC VARIABILITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; LETTER; MAINTENANCE DRUG DOSE; MAJOR CLINICAL STUDY; PHARMACOGENOMICS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ANTICONVULSANTS; AUSTRIA; CARBAMAZEPINE; DOSE-RESPONSE RELATIONSHIP, DRUG; DRUG RESISTANCE; EPILEPSY; GENOTYPE; HUMANS; NERVE TISSUE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRODUCIBILITY OF RESULTS; SODIUM CHANNELS;

EID: 44849130765     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2008.01549_4.x     Document Type: Letter

References (5)

1. Cavalleri GL, Weale ME, Shianna KV, Singh R, Lynch JM, Grinton B, Szoeke C, Murphy K, Kinirons P, O'Rourke D, Ge D, Depondt C, Claeys KG, Pandolfo M, Gumbs C, Walley N, McNamara J, Mulley JC, Linney KN, Sheffield LJ, Radtke RA, Tate SK, Chissoe SL, Gibson RA, Hosford D, Stanton A, Graves TD, Hanna MG, Eriksson K, Kantanen AM, Kalviainen R, O'Brien TJ, Sander JW, Duncan JS, Scheffer IE, Berkovic SF, Wood NW, Doherty CP, Delanty N, Sisodiya SM, Goldstein DB. (2007) Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. Lancet Neurol 6 : 970 980.
2. Heinzen EL, Yoon W, Tate SK, Sen A, Wood NW, Sisodiya SM, Goldstein DB 2007) Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A. Am J Hum Genet 80 : 876 883.
3. Song W, Liu Z, Tan J, Nomura Y, Dong K 2004) RNA editing generates tissue-specific sodium channels with distinct gating properties. J Biol Chem 279 : 32554 32561.
4. Tate SK, Depondt C, Sisodiya SM, Cavalleri GL, Schorge S, Soranzo N, Thom M, Sen A, Shorvon SD, Sander JW, Wood NW, Goldstein DB 2005) Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin. Proc Natl Acad Sci USA 102 : 5507 5512.
5. Tate SK, Singh R, Hung CC, Tai JJ, Depondt C, Cavalleri GL, Sisodiya SM, Goldstein DB, Liou HH 2006) A common polymorphism in the SCN1A gene associates with phenytoin serum levels at maintenance dose. Pharmacogenet Genomics 16 : 721 726.