INFLUENCE OF THE SCN1A IVS5N + 5 G>A POLYMORPHISM ON THERAPY WITH CARBAMAZEPINE FOR EPILEPSY
Sterjev Z1,*, Kiteva G2, Cvetkovska E2, Petrov I2, Kuzmanovski I2, Ribarska TJ3, Nestorovska KA1, Matevska N1,Trajkovik-Jolevska S3, Dimovski AJ1, Suturkova, Lj1
*Corresponding Author: Zoran Sterjev, M. Sei. Pharm Institute of Pharmaceutical Chemistry, Faculty of Pharmacy, University “St. Cyril and Methodius,” str. Vodnjanska 17, 1000 Skopje, Republic of Macedonia; Tel./Fax:+38-923-120-229; E-mail: zost@ff.ukim.edu.mk
page: 19

REFERENCES

1. Löscher W, Klotz U, Zimprich F, Schmidt D. The clinical impact of pharmacogenetics on the treatment of epilepsy. Epilepsia. 2009; 50(1): 1-23. 2. Yu FH, Catterall WA. Overview of the voltage-gated sodium channel family. Genome Biol. 2003; 4(3): 207. 3. George AL Jr. Inherited disorders of voltage-gated sodium channels. J Clin Invest. 2005; 115(8): 1990- 1999. 4. Plummer NW, Meisler MH. Evolution and diversity of mammalian sodium channel genes. Genomics. 1999; 57(2): 323-331. 5. Tate SK, Depondt C, Sisodiya SM, Cavalleri GL, Schorge S, Soranzo N, Thom M, Sen A, Shorvon SD, Sander JW, Wood NW, Goldstein DB. Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin. Proc Natl Acad Sci USA. 2005; 102(15): 5507-5512. 6. Tate SK, Singh R, Hung CC, Tai JJ, Depondt C, Cavalleri GL, Sisodiya SM, Goldstein DB, Liou HH. A common polymorphism in the SCN1A gene associates with phenytoin serum levels at maintenance dose. Pharmacogenet Genomics. 2006; 16(10): 721-726. 7. Abe T, Seo T, Ishitsu T, Nakagawa T, Hori M, Nakagawa K. Association between SCN1A polymorphism and carbamazepine-resistant epilepsy. Br J Clin Pharmacol. 2008; 66(2): 304-307. 8. Zimprich F, Stogmann E, Bonelli S, Baumgartner C, Mueller JC, Meitinger, T, Zimprich A, Strom TM. A functional polymorphism in the SCN1A gene is not associated with carbamazepine dosages in Austrian patients with epilepsy. Epilepsia. 2008; 49(6): 1108-1109. 9. Heinzen EL, Yoon W, Tate SK, Sen A, Wood NW, Sisodiya SM, Goldstein DB. Nova2 interacts with a cis-acting polymorphism to infl uence the proportions of drug-responsive splice variants of SCN1A. Am J Hum Genet. 2007; 80(5): 876-883. 10. Thompson CH, Kahlig KM, George AL Jr. SCN1A splice variants exhibit divergent sensitivity to commonly used antiepileptic drugs. Epilepsia. 2011; 52(5): 1000-1009. 11. Sánchez MB, Herranz JL, Leno C, Arteaga R, Oterino A, Valdizán EM, Nicolás JM, Adín J, Armijo JA. Genetic factors associated with drug-resistance of epilepsy: relevance of stratifi cation by patient age and aetiology of epilepsy. Seisure. 2010; 19(2): 93-101. 12. Manna I, Gambardella A, Bianchi A, Striano P, Tozzi R, Aguglia U, Beccaria F, Benna P, Campostrini R, Canevini MP, Condino F, Durisotti C, Elia M, Giallonardo AT, Iudice A, Labate A, La Neve A, Michelucci R, Muscas GC, Paravidino R, Zaccara G, Zucca C, Zara F, Perucca E. A functional polymorphism in the SCN1A gene does not infl uence antiepileptic drug responsiveness in Italian patients with focal epilepsy. Epilepsia. 2011; 52(5): 1528-1167. 13. Depondt C. The potential of pharmacogenetics in the treatment of epilepsy. Eur J Paediatr Neurol. 2006; 10(2): 57-65.



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