The lack of influence of IVS5-91 G>A polymorphism of the SCN1A gene on efficacy of lamotrigine in patients with focal epilepsy

References

• Kwan P,Brodie MJ. Early identification of refractory epilepsy. N Engl J Med. 2000;342(5):314–319.
   Google Scholar
• Remy S, Beck H. Molecular and cellular mechanisms of pharmacoresistance in epilepsy. Brain. 2006 Jan;129(Pt 1):18–35.
   PubMed Web of Science ®Google Scholar
• Rogawski MA, Löscher W. The neurobiology of antiepileptic drugs. Nat Rev Neurosci. 2004;5(7):553–564.
   PubMed Web of Science ®Google Scholar
• Ferraro TN, Buono RJ. The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview. Epilepsy Behav. 2005;7(1):18–36.
   PubMed Web of Science ®Google Scholar
• Thompson CH, Kahlig KM, George AL Jr. SCN1A splice variants exhibit divergent sensitivity to commonly used antiepileptic drugs. Epilepsia. 2011;52(5):1000–1009.
   PubMed Web of Science ®Google Scholar
• Catteral WA. From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels. Neuron. 2000;26(1):13–25.
   PubMed Web of Science ®Google Scholar
• Trimmer JS, Rhodes KJ. Localization of voltage-gated ion channels in mammalian brain. Annu Rev Physiol. 2004;66:477–519.
   PubMed Web of Science ®Google Scholar
• Goldin AL. Resurgence of sodium channel research. Annu Rev Physiol. 2001;63:871–894.
   PubMed Web of Science ®Google Scholar
• Mantegazza M, Curia G, Biagini G, et al. Voltage-gated sodium channels as therapeutic targets in epilepsy and other neurological disorders. Lancet Neurol. 2010;9(4):413–424.
   PubMed Web of Science ®Google Scholar
• Heinzen EL, Yoon W, Tate SK, et al. Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A. Am J Hum Genet. 2007;80(5):876–883.
   PubMed Web of Science ®Google Scholar
• Fletcher EV, Kullmann DM, Schorge S. Alternative splicing modulates inactivation of type 1 voltage-gated sodium channels by toggling an amino acid in the first S3-S4 linker. J Biol Chem. 2011;286(42):36700–36708.
   PubMed Web of Science ®Google Scholar
• Tate SK, Depondt C, Sisodiya SM, et al. Genetic predictors of the maximum doses patients receive during clinical use of the antiepileptic drugs carbamazepine and phenytoin. Proc Natl Acad Sci U S A. 2005;102(15):5507–5512.
   PubMed Web of Science ®Google Scholar
• Abe T, Seo T, Ishitsu T, et al. Association between SCN1A polymorphism and carbamazepine-resistant epilepsy. Br J Clin Pharmacol. 2008;66(2):304–307.
   PubMed Web of Science ®Google Scholar
• Tate SK, Singh R, Hung CC, et al. A common polymorphism in the SCN1A gene associates with phenytoin serum levels at maintenance dose. Pharmacogenet Genomics. 2006;16(10):721–726.
   PubMed Web of Science ®Google Scholar
• Krikova EV, Val’dman EA, Avakian GN, et al. Association study of the SCN1 gene polymorphism and effective dose of lamotrigine. Zh Nevrol Psikhiatr Im S S Korsakova. 2009;109(10):57–62.
   PubMedGoogle Scholar
• Ma CL, Wu XY, Jiao Z, et al. SCN1A, ABCC2 and UGT2B7 gene polymorphisms in association with individualized oxcarbazepine therapy. Pharmacogenomics. 2015;16(4):347–360.
   PubMed Web of Science ®Google Scholar
• Hung CC, Chang WL, Ho JL, et al. Association of polymorphisms in EPHX1, UGT2B7, ABCB1, ABCC2, SCN1A and SCN2A genes with carbamazepine therapy optimization. Pharmacogenomics. 2012;13(2):159–169.
   PubMed Web of Science ®Google Scholar
• Angelopoulou C, Veletza S, Heliopoulos I, et al. Association of SCN1A gene polymorphism with antiepileptic drug responsiveness in the population of Thrace, Greece. Arch Med Sci. 2017;13(1):138–147.
   PubMed Web of Science ®Google Scholar
• Kwan P, Poon WS, Ng HK, et al. Ng PW i sur. Multidrug resistance in epilepsy and polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A: correlation among phenotype, genotype and mRNA expression. Pharmacogenet Genomics. 2008;18(11):989–998.
   PubMed Web of Science ®Google Scholar
• Zimprich F, Stogmann E, Bonelli S, et al. A functional polymorphism in the SCN1A gene is not associated with carbamazepine dosages in Austrian patients with epilepsy. Epilepsia. 2008;49(6):1108–1109.
   PubMed Web of Science ®Google Scholar
• Manna I, Gambardella A, Bianchi A, et al. A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy. Epilepsia. 2011;52(5):40–44.
   PubMed Web of Science ®Google Scholar
• Sterjev Z, Kiteva G, Cvetkovska E, et al. Influence of the SCN1A IVS5N + 5 G>A polymorphism on therapy with carbamazepine for Epilepsy. Balkan J Med Genet. 2012;15(1):19–24.
   PubMed Web of Science ®Google Scholar
• Haerian BS, Baum L, Kwan P, et al. SCN1A, SCN2A and SCN3A gene polymorphisms and responsiveness to antiepileptic drugs: a multicenter cohort study and meta-analysis. Pharmacogenomics. 2013;14(10):1153–1166.
   PubMed Web of Science ®Google Scholar
• Haerian BS, Baum L, Tan HJ, et al. SCN1A IVS5N+5 polymorphism and response to sodium valproate: a multicenter study. Pharmacogenomics. 2012;13(13):1477–1485.
   PubMed Web of Science ®Google Scholar
• Kumari R, Lakhan R, Kumar S, et al. SCN1AIVS5-91G>A polymorphism is associated with susceptibility to epilepsy but not with drug responsiveness. Biochimie. 2013;95(6):1350–1353.
   PubMed Web of Science ®Google Scholar
• Kuo CC. A common anticonvulsant binding site for phenytoin, carbamazepine, and lamotrigine in neuronal Na+ channels. Mol Pharmacol. 1998;54(4):712–721.
   PubMed Web of Science ®Google Scholar
• Lipkind GM, Fozzard HA. Molecular model of anticonvulsant drug binding to the voltage-gated sodium channel inner pore. Mol Pharmacol. 2010;78(4):631–638.
   PubMed Web of Science ®Google Scholar
• Commision on classification and terminology of the international league against epilepsy. Proposal for revised classification of epilepsies and epileptic sindromes. Epilepsia. 1989;30(4):389–399.
   Google Scholar
• Zhou BT, Zhou QH, Yin JY, et al. Comprehensive analysis of the association of SCN1A gene polymorphisms with the retention rate of carbamazepine following monotherapy for new-onset focal seizures in the Chinese Han population. Clin Exp Pharmacol Physiol. 2012;39(4):379–384.
   Google Scholar
• Zhou BT, Zhou QH, Yin JY, et al. Effects of SCN1A and GABA receptor genetic polymorphisms on carbamazepine tolerability and efficacy in Chinese patients with partial seizures: 2-year longitudinal clinical follow-up. CNS Neurosci Ther. 2012;18(7):566–572.
   Google Scholar
• D’Antuono M, Kohling R, Ricalzone S, et al. Antiepileptic drugs abolish ictal but not interictal epileptiform discharges in vitro. Epilepsia. 2010;51:423–431.
   Google Scholar
• Löscher W, Klotz U, Zimprich F, et al. The clinical impact of pharmacogenetics on the treatment of epilepsy. Epilepsia. 2009;50(1):1–23.
   Google Scholar