The pharmacogenomics of epilepsy

References

• Thurman DJ, Beghi E, Begley CE, et al. Standards for epidemiologic studies and surveillance of epilepsy. Epilepsia 2011;52(Suppl 7):2-26
   PubMed Web of Science ®Google Scholar
• Moshe SL, Perucca E, Ryvlin P, Tomson T. Epilepsy: new advances. Lancet 2015;385(9971):884-98
   PubMed Web of Science ®Google Scholar
• Kutt H, Wolk M, Scherman R, McDowell F. Insufficient Paraphydroxylation as a Cause of Diphenylhydantoin Toxicity. Neurology 1964;14:542-8
   PubMed Web of Science ®Google Scholar
• Loscher W, Klotz U, Zimprich F, Schmidt D. The clinical impact of pharmacogenetics on the treatment of epilepsy. Epilepsia 2009;50(1):1-23
   PubMed Web of Science ®Google Scholar
• Walker LE, Mirza N, Yip VL, et al. Personalized medicine approaches in epilepsy. J Intern Med 2015;277(2):218-34
   PubMed Web of Science ®Google Scholar
• Lopez-Garcia MA, Feria-Romero IA, Fernando-Serrano H, et al. Genetic polymorphisms associated with antiepileptic metabolism. Front Biosci (Elite Ed) 2014;6:377-86
   PubMedGoogle Scholar
• Caudle KE, Rettie AE, Whirl-Carrillo M, et al. Clinical pharmacogenetics implementation consortium guidelines for CYP2C9 and HLA-B genotypes and phenytoin dosing. Clin Pharmacol Ther 2014;96(5):542-8
   PubMed Web of Science ®Google Scholar
• Franco V, Perucca E. CYP2C9 polymorphisms and phenytoin metabolism: implications for adverse effects. Expert Opin Drug Metab Toxicol 2015;1-11
   Google Scholar
• Chung WH, Chang WC, Lee YS, et al. Genetic variants associated with phenytoin-related severe cutaneous adverse reactions. JAMA 2014;312(5):525-34
   PubMed Web of Science ®Google Scholar
• Patsalos PN, Berry DJ, Bourgeois BF, et al. Antiepileptic drugs–best practice guidelines for therapeutic drug monitoring: a position paper by the subcommission on therapeutic drug monitoring, ILAE commission on therapeutic strategies. Epilepsia 2008;49(7):1239-76
   PubMed Web of Science ®Google Scholar
• Yukawa E, Mamiya K. Effect of CYP2C19 genetic polymorphism on pharmacokinetics of phenytoin and phenobarbital in Japanese epileptic patients using Non-linear Mixed Effects Model approach. J Clin Pharm Ther 2006;31(3):275-82
   PubMed Web of Science ®Google Scholar
• Goto S, Seo T, Murata T, et al. Population estimation of the effects of cytochrome P450 2C9 and 2C19 polymorphisms on phenobarbital clearance in Japanese. Ther Drug Monit 2007;29(1):118-21
   PubMed Web of Science ®Google Scholar
• Tan L, Yu JT, Sun YP, et al. The influence of cytochrome oxidase CYP2A6, CYP2B6, and CYP2C9 polymorphisms on the plasma concentrations of valproic acid in epileptic patients. Clin Neurol Neurosurg 2010;112(4):320-3
   PubMed Web of Science ®Google Scholar
• Budi T, Toth K, Nagy A, et al. Clinical significance of CYP2C9-status guided valproic acid therapy in children. Epilepsia 2015;56(6):849-55
   PubMed Web of Science ®Google Scholar
• Hung CC, Ho JL, Chang WL, et al. Association of genetic variants in six candidate genes with valproic acid therapy optimization. Pharmacogenomics 2011;12(8):1107-17
   PubMed Web of Science ®Google Scholar
• Chu XM, Zhang LF, Wang GJ, et al. Influence of UDP-glucuronosyltransferase polymorphisms on valproic acid pharmacokinetics in Chinese epilepsy patients. Eur J Clin Pharmacol 2012;68(10):1395-401
   PubMed Web of Science ®Google Scholar
• Rettie AE, Rettenmeier AW, Howald WN, Baillie TA. Cytochrome P-450–catalyzed formation of delta 4-VPA, a toxic metabolite of valproic acid. Science 1987;235(4791):890-3
   PubMed Web of Science ®Google Scholar
• Sadeque AJ, Fisher MB, Korzekwa KR, et al. Human CYP2C9 and CYP2A6 mediate formation of the hepatotoxin 4-ene-valproic acid. J Pharmacol Exp Ther 1997;283(2):698-703
   PubMed Web of Science ®Google Scholar
• Ho PC, Abbott FS, Zanger UM, Chang TK. Influence of CYP2C9 genotypes on the formation of a hepatotoxic metabolite of valproic acid in human liver microsomes. Pharmacogenomics J 2003;3(6):335-42
   PubMed Web of Science ®Google Scholar
• Posner J, Cohen AF, Land G, et al. The pharmacokinetics of lamotrigine (BW430C) in healthy subjects with unconjugated hyperbilirubinaemia (Gilbert’s syndrome). Br J Clin Pharmacol 1989;28(1):117-20
   PubMed Web of Science ®Google Scholar
• Gulcebi MI, Ozkaynakci A, Goren MZ, et al. The relationship between UGT1A4 polymorphism and serum concentration of lamotrigine in patients with epilepsy. Epilepsy Res 2011;95(1-2):1-8
   PubMed Web of Science ®Google Scholar
• Chang Y, Yang LY, Zhang MC, Liu SY. Correlation of the UGT1A4 gene polymorphism with serum concentration and therapeutic efficacy of lamotrigine in Han Chinese of Northern China. Eur J Clin Pharmacol 2014;70(8):941-6
   PubMed Web of Science ®Google Scholar
• Hermann R, Borlak J, Munzel U, et al. The role of Gilbert’s syndrome and frequent NAT2 slow acetylation polymorphisms in the pharmacokinetics of retigabine. Pharmacogenomics J 2006;6(3):211-19
   PubMed Web of Science ®Google 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):347-60
   PubMed Web of Science ®Google Scholar
• Brodie MJ, Barry SJ, Bamagous GA, et al. Patterns of treatment response in newly diagnosed epilepsy. Neurology 2012;78(20):1548-54
   PubMed Web of Science ®Google Scholar
• Dallas S, Miller DS, Bendayan R. Multidrug resistance-associated proteins: expression and function in the central nervous system. Pharmacol Rev 2006;58(2):140-61
   PubMed Web of Science ®Google Scholar
• Potschka H, Brodie MJ. Pharmacoresistance. Handb Clin Neurol 2012;108:741-57
   PubMedGoogle Scholar
• Hoffmeyer S, Burk O, von Richter O, et al. Functional polymorphisms of the human multidrug-resistance gene: multiple sequence variations and correlation of one allele with P-glycoprotein expression and activity in vivo. Proc Natl Acad Sci U S A 2000;97(7):3473-8
   PubMed Web of Science ®Google Scholar
• Siddiqui A, Kerb R, Weale ME, et al. Association of multidrug resistance in epilepsy with a polymorphism in the drug-transporter gene ABCB1. N Engl J Med 2003;348(15):1442-8
   PubMed Web of Science ®Google Scholar
• Haerian BS, Lim KS, Tan CT, et al. Association of ABCB1 gene polymorphisms and their haplotypes with response to antiepileptic drugs: a systematic review and meta-analysis. Pharmacogenomics 2011;12(5):713-25
   PubMed Web of Science ®Google Scholar
• Manna I, Gambardella A, Labate A, et al. Polymorphism of the multidrug resistance 1 gene MDR1/ABCB1 C3435T and response to antiepileptic drug treatment in temporal lobe epilepsy. Seizure 2015;24:124-6
   PubMed Web of Science ®Google Scholar
• Bournissen FG, Moretti ME, Juurlink DN, et al. Polymorphism of the MDR1/ABCB1 C3435T drug-transporter and resistance to anticonvulsant drugs: a meta-analysis. Epilepsia 2009;50(4):898-903
   PubMed Web of Science ®Google Scholar
• Keangpraphun T, Towanabut S, Chinvarun Y, Kijsanayotin P. Association of ABCB1 C3435T polymorphism with phenobarbital resistance in Thai patients with epilepsy. J Clin Pharm Ther 2015;40(3):315-19
   PubMed Web of Science ®Google Scholar
• Simon C, Stieger B, Kullak-Ublick GA, et al. Intestinal expression of cytochrome P450 enzymes and ABC transporters and carbamazepine and phenytoin disposition. Acta Neurol Scand 2007;115(4):232-42
   PubMed Web of Science ®Google Scholar
• Kim DW, Lee SK, Chu K, et al. Lack of association between ABCB1, ABCG2, and ABCC2 genetic polymorphisms and multidrug resistance in partial epilepsy. Epilepsy Res 2009;84(1):86-90
   PubMed Web of Science ®Google Scholar
• Ufer M, Mosyagin I, Muhle H, et al. Non-response to antiepileptic pharmacotherapy is associated with the ABCC2 -24C>T polymorphism in young and adult patients with epilepsy. Pharmacogenet Genomics 2009;19(5):353-62
   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 anti-epileptic drugs carbamazepine and phenytoin. Proc Natl Acad Sci U S A 2005;102(15):5507-12
   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):721-6
   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):304-7
   PubMed Web of Science ®Google Scholar
• Thompson CH, Kahlig KM, George ALJr. SCN1A splice variants exhibit divergent sensitivity to commonly used antiepileptic drugs. Epilepsia 2011;52(5):1000-9
   PubMed Web of Science ®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):566-72
   PubMed Web of Science ®Google Scholar
• Menzler K, Hermsen A, Balkenhol K, et al. A common SCN1A splice-site polymorphism modifies the effect of carbamazepine on cortical excitability–a pharmacogenetic transcranial magnetic stimulation study. Epilepsia 2014;55(2):362-9
   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):1108-9
   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):e40-4
   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):1153-66
   PubMed Web of Science ®Google Scholar
• Yip TS, O’Doherty C, Tan NC, et al. SCN1A variations and response to multiple antiepileptic drugs. Pharmacogenomics J 2014;14(4):385-9
   PubMed Web of Science ®Google Scholar
• Guerrini R, Dravet C, Genton P, et al. Lamotrigine and seizure aggravation in severe myoclonic epilepsy. Epilepsia 1998;39(5):508-12
   PubMed Web of Science ®Google Scholar
• Hani AJ, Mikati HM, Mikati MA. Genetics of pediatric epilepsy. Pediatr Clin North Am 2015;62(3):703-22
   PubMed Web of Science ®Google Scholar
• Qu J, Zhang Y, Yang ZQ, et al. Gene-wide tagging study of the association between KCNT1 polymorphisms and the susceptibility and efficacy of genetic generalized epilepsy in Chinese population. CNS Neurosci Ther 2014;20(2):140-6
   PubMed Web of Science ®Google Scholar
• Lynch JM, Tate SK, Kinirons P, et al. No major role of common SV2A variation for predisposition or levetiracetam response in epilepsy. Epilepsy Res 2009;83(1):44-51
   PubMed Web of Science ®Google Scholar
• Piana C, Antunes Nde J, Della Pasqua O. Implications of pharmacogenetics for the therapeutic use of antiepileptic drugs. Expert Opin Drug Metab Toxicol 2014;10(3):341-58
   PubMed Web of Science ®Google Scholar
• Ogusu N, Saruwatari J, Nakashima H, et al. Impact of the superoxide dismutase 2 Val16Ala polymorphism on the relationship between valproic acid exposure and elevation of gamma-glutamyltransferase in patients with epilepsy: a population pharmacokinetic-pharmacodynamic analysis. PLoS One 2014;9(11):e111066
   PubMed Web of Science ®Google Scholar
• Fricke-Galindo I, Jung-Cook H, Lopez-Lopez M. Pharmacogenetics of adverse reactions to antiepileptic drugs. Neurologia 2015. [Epub ahead of print]
   PubMedGoogle Scholar
• Cheng CY, Su SC, Chen CH, et al. HLA associations and clinical implications in T-cell mediated drug hypersensitivity reactions: an updated review. J Immunol Res 2014;2014:565320
   PubMed Web of Science ®Google Scholar
• Chung WH, Hung SI, Hong HS, et al. Medical genetics: a marker for Stevens-Johnson syndrome. Nature 2004;428(6982):486
   PubMed Web of Science ®Google Scholar
• Hung SI, Chung WH, Jee SH, et al. Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions. Pharmacogenet Genomics 2006;16(4):297-306
   PubMed Web of Science ®Google Scholar
• Lonjou C, Thomas L, Borot N, et al. A marker for Stevens-Johnson syndrome ethnicity matters. Pharmacogenomics J 2006;6(4):265-8
   PubMed Web of Science ®Google Scholar
• Mann MW, Pons G. Various pharmacogenetic aspects of antiepileptic drug therapy: a review. CNS Drugs 2007;21(2):143-64
   PubMed Web of Science ®Google Scholar
• Kaniwa N, Saito Y. The risk of cutaneous adverse reactions among patients with the HLA-A* 31:01 allele who are given carbamazepine, oxcarbazepine or eslicarbazepine: a perspective review. Ther Adv Drug Saf 2013;4(6):246-53
   Google Scholar
• Amstutz U, Shear NH, Rieder MJ, et al. Recommendations for HLA-B*15:02 and HLA-A*31:01 genetic testing to reduce the risk of carbamazepine-induced hypersensitivity reactions. Epilepsia 2014;55(4):496-506
   PubMed Web of Science ®Google Scholar
• Leckband SG, Kelsoe JR, Dunnenberger HM, et al. Clinical Pharmacogenetics Implementation Consortium guidelines for HLA-B genotype and carbamazepine dosing. Clin Pharmacol Ther 2013;94(3):324-8
   PubMed Web of Science ®Google Scholar
• Chung WH, Hung SI, Yang JY, et al. Granulysin is a key mediator for disseminated keratinocyte death in Stevens-Johnson syndrome and toxic epidermal necrolysis. Nat Med 2008;14(12):1343-50
   PubMed Web of Science ®Google Scholar
• Ferrell PBJr, McLeod HL. Carbamazepine, HLA-B*1502 and risk of Stevens-Johnson syndrome and toxic epidermal necrolysis: US FDA recommendations. Pharmacogenomics 2008;9(10):1543-6
   PubMed Web of Science ®Google Scholar
• Chen P, Lin JJ, Lu CS, et al. Carbamazepine-induced toxic effects and HLA-B*1502 screening in Taiwan. N Engl J Med 2011;364(12):1126-33
   PubMed Web of Science ®Google Scholar
• Cheung YK, Cheng SH, Chan EJ, et al. HLA-B alleles associated with severe cutaneous reactions to antiepileptic drugs in Han Chinese. Epilepsia 2013;54(7):1307-14
   PubMed Web of Science ®Google Scholar
• Hung SI, Chung WH, Liu ZS, et al. Common risk allele in aromatic antiepileptic-drug induced Stevens-Johnson syndrome and toxic epidermal necrolysis in Han Chinese. Pharmacogenomics 2010;11(3):349-56
   PubMed Web of Science ®Google Scholar
• McCormack M, Alfirevic A, Bourgeois S, et al. HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans. N Engl J Med 2011;364(12):1134-43
   PubMed Web of Science ®Google Scholar
• Ozeki T, Mushiroda T, Yowang A, et al. Genome-wide association study identifies HLA-A*3101 allele as a genetic risk factor for carbamazepine-induced cutaneous adverse drug reactions in Japanese population. Hum Mol Genet 2011;20(5):1034-41
   PubMed Web of Science ®Google Scholar
• Genin E, Chen DP, Hung SI, et al. HLA-A*31:01 and different types of carbamazepine-induced severe cutaneous adverse reactions: an international study and meta-analysis. Pharmacogenomics J 2014;14(3):281-8
   PubMed Web of Science ®Google Scholar
• Plumpton CO, Yip VL, Alfirevic A, et al. Cost-effectiveness of screening for HLA-A*31:01 prior to initiation of carbamazepine in epilepsy. Epilepsia 2015;56(4):556-63
   PubMed Web of Science ®Google Scholar
• Wang W, Hu FY, Wu XT, et al. Genetic predictors of Stevens-Johnson syndrome and toxic epidermal necrolysis induced by aromatic antiepileptic drugs among the Chinese Han population. Epilepsy Behav 2014;37:16-19
   PubMed Web of Science ®Google Scholar
• Goldstein DB, Berkovic SF, Lowenstein DH on behalf of the EpiPM consortium. A roadmap for precision medicine in the epilepsies. Lancet Neurol 2015. (In press)
   Google Scholar
• Thomas RH, Berkovic SF. The hidden genetics of epilepsy-a clinically important new paradigm. Nat Rev Neurol 2014;10(5):283-92
   PubMed Web of Science ®Google Scholar
• Pong AW, Geary BR, Engelstad KM, et al. Glucose transporter type I deficiency syndrome: epilepsy phenotypes and outcomes. Epilepsia 2012;53(9):1503-10
   PubMed Web of Science ®Google Scholar
• Mills PB, Struys E, Jakobs C, et al. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med 2006;12(3):307-9
   PubMed Web of Science ®Google Scholar
• Barcia G, Fleming MR, Deligniere A, et al. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet 2012;44(11):1255-9
   PubMed Web of Science ®Google Scholar
• Bhattacharjee A, Joiner WJ, Wu M, et al. Slick (Slo2.1), a rapidly-gating sodium-activated potassium channel inhibited by ATP. J Neurosci 2003;23(37):11681-91
   PubMed Web of Science ®Google Scholar
• Milligan CJ, Li M, Gazina EV, et al. KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. Ann Neurol 2014;75(4):581-90
   PubMed Web of Science ®Google Scholar
• Bearden D, Strong A, Ehnot J, et al. Targeted treatment of migrating partial seizures of infancy with quinidine. Ann Neurol 2014;76(3):457-61
   PubMed Web of Science ®Google Scholar
• Mikati MA JJ, Carboni M, Shashi V, et al. Quinidine in the treatment of KCNT1 positive epilepsies. Ann Neurol 2015. [Epub ahead of print]
   PubMedGoogle Scholar
• Poduri A. A channel for precision diagnosis and treatment in genetic epilepsy. Ann Neurol 2014;76(3):323-4
   PubMed Web of Science ®Google Scholar
• Available from: http://www.cureepilepsy.org/egi/index.asp
   Google Scholar
• Orhan G, Bock M, Schepers D, et al. Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. Ann Neurol 2014;75(3):382-94
   PubMed Web of Science ®Google Scholar
• Baraban SC, Dinday MT, Hortopan GA. Drug screening in Scn1a zebrafish mutant identifies clemizole as a potential Dravet syndrome treatment. Nat Commun 2013;4:2410
   PubMed Web of Science ®Google Scholar
• Yuan H, Hansen KB, Zhang J, et al. Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy. Nat Commun 2014;5:3251
   PubMed Web of Science ®Google Scholar
• Krueger DA, Wilfong AA, Holland-Bouley K, et al. Everolimus treatment of refractory epilepsy in tuberous sclerosis complex. Ann Neurol 2013;74(5):679-87
   PubMed Web of Science ®Google Scholar
• Duan N, Kravitz RL, Schmid CH. Single-patient (n-of-1) trials: a pragmatic clinical decision methodology for patient-centered comparative effectiveness research. J Clin Epidemiol 2013;66(8 Suppl):S21-8
   PubMed Web of Science ®Google Scholar