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Volumn 11, Issue 7, 2010, Pages 927-941

Genetic profile of patients with epilepsy on first-line antiepileptic drugs and potential directions for personalized treatment

Author keywords

allele frequency; antiepileptic drug; drug response; genetic variant; metabolizer; patients with epilepsy

Indexed keywords

ANTICONVULSIVE AGENT; CARBAMAZEPINE; CYTOCHROME P450 2C19; EPOXIDE HYDROLASE; EPOXIDE HYDROLASE 1; MULTIDRUG RESISTANCE PROTEIN 1; PHENOBARBITAL; PHENYTOIN; SODIUM CHANNEL NAV1.1; UNCLASSIFIED DRUG; VALPROIC ACID;

EID: 77954367293     PISSN: 14622416     EISSN: 17448042     Source Type: Journal    
DOI: 10.2217/pgs.10.62     Document Type: Article
Times cited : (38)

References (82)
  • 1
    • 4644355478 scopus 로고    scopus 로고
    • Prevalence of neurological disorders in Bangalore India: A community-based study with a comparison between urban and rural areas
    • Gourie-Devi M, Gururaj G, Satishchandra P, Subbakrishna DK: Prevalence of neurological disorders in Bangalore, India: a community-based study with a comparison between urban and rural areas. Neuro epidemiology 23, 261-268 (2004).
    • (2004) Neuro Epidemiology , vol.23 , pp. 261-268
    • Gourie-Devi, M.1    Gururaj, G.2    Satishchandra, P.3    Subbakrishna, D.K.4
  • 2
    • 68849120728 scopus 로고    scopus 로고
    • Challenges in the management of epilepsy in resource-poor countries
    • Radhakrishnan K: Challenges in the management of epilepsy in resource-poor countries. Nat. Rev. Neurol. 5, 323-330 (2009).
    • (2009) Nat. Rev. Neurol. , vol.5 , pp. 323-330
    • Radhakrishnan, K.1
  • 3
    • 0030873963 scopus 로고    scopus 로고
    • The new antiepileptic drugs: A systematic review of their efficacy and tolerability
    • Marson AG, Kadir ZA, Hutton JL, Chadwick DW: The new antiepileptic drugs: a systematic review of their efficacy and tolerability. Epilepsia 38, 859-880 (1997).
    • (1997) Epilepsia , vol.38 , pp. 859-880
    • Marson, A.G.1    Kadir, Z.A.2    Hutton, J.L.3    Chadwick, D.W.4
  • 4
    • 0032221244 scopus 로고    scopus 로고
    • People of India: Biological diversity and affnities
    • Majumder PP: People of India: biological diversity and affnities. Evol. Anthrop. 6, 100-110 (1998)
    • (1998) Evol. Anthrop. , vol.6 , pp. 100-110
    • Majumder, P.P.1
  • 5
    • 28044436937 scopus 로고    scopus 로고
    • The Indian Genome Variation Database (IGVdb): A project overview
    • The Indian Genome Variation database (IGVdb): a project overview. Hum. Genet. 118, 1-11 (2005).
    • (2005) Hum. Genet. , vol.118 , pp. 1-11
  • 6
    • 44149107150 scopus 로고    scopus 로고
    • Indian Genome Variation Consortium: Genetic landscape of the people of India: A canvas for disease gene exploration
    • Indian Genome Variation Consortium: Genetic landscape of the people of India: a canvas for disease gene exploration. J. Genet. 87, 3-20 (2008).
    • (2008) J. Genet. , vol.87 , pp. 3-20
  • 8
    • 58149268938 scopus 로고    scopus 로고
    • No association of ABCB1 polymorphisms with drug-refractory epilepsy in a North Indian population
    • Lakhan R, Misra UK, Kalita J et al.: No association of ABCB1 polymorphisms with drug-refractory epilepsy in a North Indian population. Epilepsy Behav. 14, 78-82 (2009).
    • (2009) Epilepsy Behav. , vol.14 , pp. 78-82
    • Lakhan, R.1    Misra, U.K.2    Kalita, J.3
  • 9
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16, 1215 (1988).
    • (1988) Nucleic Acids Res. , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 11
    • 0036841947 scopus 로고    scopus 로고
    • Pathways of carbamazepine bioactivation in vitro I. Characterization of human cytochromes P450 responsible for the formation of 2-and 3-hydroxylated metabolites
    • Pearce RE, Vakkalagadda GR, Leeder JS: Pathways of carbamazepine bioactivation in vitro I. Characterization of human cytochromes P450 responsible for the formation of 2-and 3-hydroxylated metabolites. Drug Metab. Dispos. 30, 1170-1179 (2002).
    • (2002) Drug Metab. Dispos. , vol.30 , pp. 1170-1179
    • Pearce, R.E.1    Vakkalagadda, G.R.2    Leeder, J.S.3
  • 12
    • 0032908778 scopus 로고    scopus 로고
    • Functional signifcance of a C->A polymorphism in intron 1 of the cytochrome P450 CYP1A2 gene tested with caffeine
    • Sachse C, Brockmoller J, Bauer S, Roots I: Functional signifcance of a C->A polymorphism in intron 1 of the cytochrome P450 CYP1A2 gene tested with caffeine. Br. J. Clin. Pharmacol. 47, 445-449 (1999).
    • (1999) Br. J. Clin. Pharmacol. , vol.47 , pp. 445-449
    • Sachse, C.1    Brockmoller, J.2    Bauer, S.3    Roots, I.4
  • 13
    • 0028300816 scopus 로고
    • Human liver carbamazepine metabolism. Role of CYP3A4 and CYP2C8 in 10,11-epoxide formation
    • Kerr BM, Thummel KE, Wurden CJ et al.: Human liver carbamazepine metabolism. Role of CYP3A4 and CYP2C8 in 10,11-epoxide formation. Biochem. Pharmacol. 47, 1969-1979 (1994).
    • (1994) Biochem. Pharmacol. , vol.47 , pp. 1969-1979
    • Kerr, B.M.1    Thummel, K.E.2    Wurden, C.J.3
  • 14
    • 0034791777 scopus 로고    scopus 로고
    • Polymorphisms in human CYP2C8 decrease metabolism of the anticancer drug palitaxel and arachidonic acid
    • Dai D, Zeldin DC, Blaisdell JA et al.: Polymorphisms in human CYP2C8 decrease metabolism of the anticancer drug palitaxel and arachidonic acid. Pharmacogenetics 11, 597-607 (2001).
    • (2001) Pharmacogenetics , vol.11 , pp. 597-607
    • Dai, D.1    Zeldin, D.C.2    Blaisdell, J.A.3
  • 15
    • 67149124051 scopus 로고    scopus 로고
    • Non-response to antiepileptic pharmacotherapy is associated with the ABCC2-24C>'T polymorphism in young and adult patients with epilepsy
    • 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 19, 353-362 (2009).
    • (2009) Pharmacogenet. Genomics , vol.19 , pp. 353-362
    • Ufer, M.1    Mosyagin, I.2    Muhle, H.3
  • 17
    • 30844451771 scopus 로고    scopus 로고
    • Update on pharmacogenetics in epilepsy: A brief review
    • Szoeke CE, Newton M, Wood JM et al.: Update on pharmacogenetics in epilepsy: a brief review. Lancet Neurol. 5, 189-196 (2006).
    • (2006) Lancet Neurol. , vol.5 , pp. 189-196
    • Szoeke, C.E.1    Newton, M.2    Wood, J.M.3
  • 18
    • 0034978572 scopus 로고    scopus 로고
    • The effect of genetic polymorphism of cytochrome P450 CYP2C9 on phenytoin dose requirement
    • van der Weide J, Steijns LS, van Weelden MJ, de Haan K: The effect of genetic polymorphism of cytochrome P450 CYP2C9 on phenytoin dose requirement. Pharmacogenetics 11, 287-291 (2001).
    • (2001) Pharmacogenetics , vol.11 , pp. 287-291
    • Van Der Weide, J.1    Steijns, L.S.2    Van Weelden, M.J.3    De Haan, K.4
  • 19
    • 33847137375 scopus 로고    scopus 로고
    • Population estimation of the effects of cytochrome P450 2C9 and 2C19 polymorphisms on phenobarbital clearance in Japanese
    • 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. 29, 118-121 (2007).
    • (2007) Ther. Drug Monit. , vol.29 , pp. 118-121
    • Goto, S.1    Seo, T.2    Murata, T.3
  • 20
    • 34249728419 scopus 로고    scopus 로고
    • Contributions of CYP2C9/CYP2C19 genotypes and drug interaction to the phenytoin treatment in the Korean epileptic patients in the clinical setting
    • Lee SY, Lee ST, Kim JW: Contributions of CYP2C9/CYP2C19 genotypes and drug interaction to the phenytoin treatment in the Korean epileptic patients in the clinical setting. J. Biochem. Mol. Biol. 40, 448-452 (2007).
    • (2007) J. Biochem. Mol. Biol. , vol.40 , pp. 448-452
    • Lee, S.Y.1    Lee, S.T.2    Kim, J.W.3
  • 21
    • 33749037686 scopus 로고    scopus 로고
    • A common polymorphism in the SCN1A gene associates with phenytoin serum levels at maintenance dose
    • 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 16, 721-726 (2006).
    • (2006) Pharmacogenet. Genomics , vol.16 , pp. 721-726
    • Tate, S.K.1    Singh, R.2    Hung, C.C.3
  • 22
    • 0032440352 scopus 로고    scopus 로고
    • The effects of genetic polymorphisms of CYP2C9 and CYP2C19 on phenytoin metabolism in Japanese adult patients with epilepsy: Studies in stereoselective hydroxylation and population pharmacokinetics
    • Mamiya K, Ieiri I, Shimamoto J et al.: The effects of genetic polymorphisms of CYP2C9 and CYP2C19 on phenytoin metabolism in Japanese adult patients with epilepsy: studies in stereoselective hydroxylation and population pharmacokinetics. Epilepsia 39, 1317-1323 (1998).
    • (1998) Epilepsia , vol.39 , pp. 1317-1323
    • Mamiya, K.1    Ieiri, I.2    Shimamoto, J.3
  • 23
    • 21444446714 scopus 로고    scopus 로고
    • Evaluation of phenytoin dosage regimens based on genotyping of CYP2C subfamily in routinely treated Japanese patients
    • Taguchi M, Hongou K, Yagi S et al.: Evaluation of phenytoin dosage regimens based on genotyping of CYP2C subfamily in routinely treated Japanese patients. Drug Metab. Pharmacokinet. 20, 107-112 (2005).
    • (2005) Drug Metab. Pharmacokinet. , vol.20 , pp. 107-112
    • Taguchi, M.1    Hongou, K.2    Yagi, S.3
  • 24
    • 10744228301 scopus 로고    scopus 로고
    • CYP2C polymorphisms, phenytoin metabolism and gingival overgrowth in epileptic subjects
    • Soga Y, Nishimura F, Ohtsuka Y et al.: CYP2C polymorphisms, phenytoin metabolism and gingival overgrowth in epileptic subjects. Life Sci. 74, 827-834 (2004).
    • (2004) Life Sci. , vol.74 , pp. 827-834
    • Soga, Y.1    Nishimura, F.2    Ohtsuka, Y.3
  • 25
    • 27444433157 scopus 로고    scopus 로고
    • CYP2C9, CYP2C19, ABCB1 (MDR1) genetic polymorphisms and phenytoin metabolism in a Black Beninese population
    • Allabi AC, Gala JL, Horsmans Y: CYP2C9, CYP2C19, ABCB1 (MDR1) genetic polymorphisms and phenytoin metabolism in a Black Beninese population. Pharmacogenet. Genomics 15, 779-786 (2005).
    • (2005) Pharmacogenet. Genomics , vol.15 , pp. 779-786
    • Allabi, A.C.1    Gala, J.L.2    Horsmans, Y.3
  • 26
    • 33947429086 scopus 로고    scopus 로고
    • Intestinal expression of cytochrome P450 enzymes and ABC transporters and carbamazepine and phenytoin disposition
    • 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. 115, 232-242 (2007).
    • (2007) Acta Neurol. Scand. , vol.115 , pp. 232-242
    • Simon, C.1    Stieger, B.2    Kullak-Ublick, G.A.3
  • 27
    • 33747156084 scopus 로고    scopus 로고
    • Paradoxical urinary phenytoin metabolite (S)/(R) ratios in CYP2C19*1/*2 patients
    • Argikar UA, Cloyd JC, Birnbaum AK et al.: Paradoxical urinary phenytoin metabolite (S)/(R) ratios in CYP2C19*1/*2 patients. Epilepsy Res. 71, 54-63 (2006).
    • (2006) Epilepsy Res. , vol.71 , pp. 54-63
    • Argikar, U.A.1    Cloyd, J.C.2    Birnbaum, A.K.3
  • 28
    • 0033151546 scopus 로고    scopus 로고
    • Human CYP2C-mediated stereoselective phenytoin hydroxylation in Japanese: Difference in chiral preference of CYP2C9 and CYP2C19
    • Yasumori T, Chen LS, Li QH et al.: Human CYP2C-mediated stereoselective phenytoin hydroxylation in Japanese: difference in chiral preference of CYP2C9 and CYP2C19. Biochem. Pharmacol. 57, 1297-1303 (1999).
    • (1999) Biochem. Pharmacol. , vol.57 , pp. 1297-1303
    • Yasumori, T.1    Chen, L.S.2    Li, Q.H.3
  • 29
    • 33745063964 scopus 로고    scopus 로고
    • Effect of CYP2C19 genetic polymorphism on pharmacokinetics of phenytoin and phenobarbital in Japanese epileptic patients using non-linear mixed effects model approach
    • 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. 31, 275-282 (2006).
    • (2006) J. Clin. Pharm. Ther. , vol.31 , pp. 275-282
    • Yukawa, E.1    Mamiya, K.2
  • 30
    • 0030858160 scopus 로고    scopus 로고
    • Genetic polymorphism of the CYP2C subfamily and its effect on the pharmacokinetics of phenytoin in Japanese patients with epilepsy
    • Odani A, Hashimoto Y, Otsuki Y et al.: Genetic polymorphism of the CYP2C subfamily and its effect on the pharmacokinetics of phenytoin in Japanese patients with epilepsy. Clin. Pharmacol. Ther. 62, 287-292 (1997).
    • (1997) Clin. Pharmacol. Ther. , vol.62 , pp. 287-292
    • Odani, A.1    Hashimoto, Y.2    Otsuki, Y.3
  • 31
    • 0034037772 scopus 로고    scopus 로고
    • CYP2C19 polymorphism effect on phenobarbitone. Pharmacokinetics in Japanese patients with epilepsy: Analysis by population pharmacokinetics
    • Mamiya K, Hadama A, Yukawa E et al.: CYP2C19 polymorphism effect on phenobarbitone. Pharmacokinetics in Japanese patients with epilepsy: analysis by population pharmacokinetics. Eur. J. Clin. Pharmacol. 55, 821-825 (2000).
    • (2000) Eur. J. Clin. Pharmacol. , vol.55 , pp. 821-825
    • Mamiya, K.1    Hadama, A.2    Yukawa, E.3
  • 32
    • 7744226277 scopus 로고    scopus 로고
    • A major infuence of CYP2C19 genotype on the steady-state concentration of N-desmethylclobazam
    • Kosaki K, Tamura K, Sato R, Samejima H, Tanigawara Y, Takahashi T: A major infuence of CYP2C19 genotype on the steady-state concentration of N-desmethylclobazam. Brain Dev. 26, 530-534 (2004).
    • (2004) Brain Dev. , vol.26 , pp. 530-534
    • Kosaki, K.1    Tamura, K.2    Sato, R.3    Samejima, H.4    Tanigawara, Y.5    Takahashi, T.6
  • 33
    • 44949115021 scopus 로고    scopus 로고
    • Impact of CYP2C19 polymorphisms on the efficacy of clobazam therapy
    • Seo T, Nagata R, Ishitsu T et al.: Impact of CYP2C19 polymorphisms on the efficacy of clobazam therapy. Pharmacogenomics 9, 527-537 (2008).
    • (2008) Pharmacogenomics , vol.9 , pp. 527-537
    • Seo, T.1    Nagata, R.2    Ishitsu, T.3
  • 36
    • 9144262579 scopus 로고    scopus 로고
    • CYP3A4 gene polymorphisms infuence testosterone 6ß-hydroxylation
    • Murayama N, Nakamura T, Saeki M et al.: CYP3A4 gene polymorphisms infuence testosterone 6ß-hydroxylation. Drug Metab. Pharmacokinet. 17, 150-156 (2002).
    • (2002) Drug Metab. Pharmacokinet. , vol.17 , pp. 150-156
    • Murayama, N.1    Nakamura, T.2    Saeki, M.3
  • 38
    • 0028295652 scopus 로고
    • Human microsomal epoxide hydrolase: Genetic polymorphism and functional expression in vitro of amino acid variants
    • Hassett C, Aicher L, Sidhu JS, Omiecinski CJ: Human microsomal epoxide hydrolase: genetic polymorphism and functional expression in vitro of amino acid variants. Hum. Mol. Genet. 3, 421-428 (1994).
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 421-428
    • Hassett, C.1    Aicher, L.2    Sidhu, J.S.3    Omiecinski, C.J.4
  • 39
    • 0037357366 scopus 로고    scopus 로고
    • Non-synonymous single nucleotide alterations in the microsomal epoxide hydrolase gene and their functional effects
    • Maekawa K, Itoda M, Hanioka N et al.: Non-synonymous single nucleotide alterations in the microsomal epoxide hydrolase gene and their functional effects. Xenobiotica 33, 277-287 (2003).
    • (2003) Xenobiotica , vol.33 , pp. 277-287
    • Maekawa, K.1    Itoda, M.2    Hanioka, N.3
  • 40
    • 20244388394 scopus 로고    scopus 로고
    • Haplotype structures of EPHX1 and their effects on the metabolism of carbamazepine-10,11-epoxide in Japanese epileptic patients
    • Nakajima Y, Saito Y, Shiseki K et al.: Haplotype structures of EPHX1 and their effects on the metabolism of carbamazepine-10,11-epoxide in Japanese epileptic patients. Eur. J. Clin. Pharmacol. 61, 25-34 (2005).
    • (2005) Eur. J. Clin. Pharmacol. , vol.61 , pp. 25-34
    • Nakajima, Y.1    Saito, Y.2    Shiseki, K.3
  • 41
    • 0036843498 scopus 로고    scopus 로고
    • Involvement of multiple UDP-glucuronosyltransferase 1A isoforms in glucuronidation of 5-(4́-hydroxyphenyl)-5-phenylhydantoin in human liver microsomes
    • Nakajima M, Sakata N, Ohashi N, Kume T, Yokoi T: Involvement of multiple UDP-glucuronosyltransferase 1A isoforms in glucuronidation of 5-(4́-hydroxyphenyl)-5-phenylhydantoin in human liver microsomes. Drug Metab. Dispos. 30, 1250-1256 (2002).
    • (2002) Drug Metab. Dispos. , vol.30 , pp. 1250-1256
    • Nakajima, M.1    Sakata, N.2    Ohashi, N.3    Kume, T.4    Yokoi, T.5
  • 42
    • 0031864410 scopus 로고    scopus 로고
    • Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II
    • Yamamoto K, Sato H, Fujiyama Y, Doida Y, Bamba T: Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II. Biochim. Biophys. Acta 1406, 267-273 (1998).
    • (1998) Biochim. Biophys. Acta , vol.1406 , pp. 267-273
    • Yamamoto, K.1    Sato, H.2    Fujiyama, Y.3    Doida, Y.4    Bamba, T.5
  • 43
    • 2942527225 scopus 로고    scopus 로고
    • UGT1A1 haplotypes associated with reduced glucuronidation and increased serum bilirubin in irinotecan-administered Japanese patients with cancer
    • Sai K, Saeki M, Saito Y et al.: UGT1A1 haplotypes associated with reduced glucuronidation and increased serum bilirubin in irinotecan-administered Japanese patients with cancer. Clin. Pharmacol. Ther. 75, 501-515 (2004).
    • (2004) Clin. Pharmacol. Ther. , vol.75 , pp. 501-515
    • Sai, K.1    Saeki, M.2    Saito, Y.3
  • 44
    • 10044275247 scopus 로고    scopus 로고
    • N-glucuronidation of carbamazepine in human tissues is mediated by UGT2B7 J
    • Staines AG, Coughtrie MW, Burchell B: N-glucuronidation of carbamazepine in human tissues is mediated by UGT2B7 J. Pharmacol. Exp. Ther. 311, 1131-1137 (2004).
    • (2004) Pharmacol. Exp. Ther. , vol.311 , pp. 1131-1137
    • Staines, A.G.1    Coughtrie, M.W.2    Burchell, B.3
  • 45
    • 58149469245 scopus 로고    scopus 로고
    • Effect of aging on glucuronidation of valproic acid in human liver microsomes and the role of UDP-glucuronosyltransferase UGT1A4 UGT1A8, and UGT1A10
    • Argikar UA, Remmel RP: Effect of aging on glucuronidation of valproic acid in human liver microsomes and the role of UDP-glucuronosyltransferase UGT1A4, UGT1A8, and UGT1A10. Drug Metab. Dispos. 37, 229-236 (2009).
    • (2009) Drug Metab. Dispos. , vol.37 , pp. 229-236
    • Argikar, U.A.1    Remmel, R.P.2
  • 46
    • 33846230114 scopus 로고    scopus 로고
    • Genetic susceptibility to diclofenac-induced hepatotoxicity: Contribution of UGT2B7 CYP2C8, and ABCC2 genotypes
    • Daly AK, Aithal GP, Leathart JB, Swainsbury RA, Dang TS, Day CP: Genetic susceptibility to diclofenac-induced hepatotoxicity: contribution of UGT2B7, CYP2C8, and ABCC2 genotypes. Gastro enterology 132, 272-281 (2007).
    • (2007) Gastro Enterology , vol.132 , pp. 272-281
    • Daly, A.K.1    Aithal, G.P.2    Leathart, J.B.3    Swainsbury, R.A.4    Dang, T.S.5    Day, C.P.6
  • 47
    • 0038209379 scopus 로고    scopus 로고
    • A pharmacogenetic study of uridine diphosphate-glucuronosyltransferase 2B7 in patients receiving morphine
    • Sawyer MB, Innocenti F, Das S et al.: A pharmacogenetic study of uridine diphosphate-glucuronosyltransferase 2B7 in patients receiving morphine. Clin. Pharmacol. Ther. 73, 566-574 (2003).
    • (2003) Clin. Pharmacol. Ther. , vol.73 , pp. 566-574
    • Sawyer, M.B.1    Innocenti, F.2    Das, S.3
  • 48
    • 56349138032 scopus 로고    scopus 로고
    • Several major antiepileptic drugs are substrates for human P-glycoprotein
    • Luna-Tortos C, Fedrowitz M, Loscher W: Several major antiepileptic drugs are substrates for human P-glycoprotein. Neuropharmacology 55, 1364-1375 (2008).
    • (2008) Neuropharmacology , vol.55 , pp. 1364-1375
    • Luna-Tortos, C.1    Fedrowitz, M.2    Loscher, W.3
  • 50
    • 0035900333 scopus 로고    scopus 로고
    • P-glycoprotein and multidrug resistance-associated protein are involved in the regulation of extracellular levels of the major antiepileptic drug carbamazepine in the brain
    • Potschka H, Fedrowitz M, Loscher W: P-glycoprotein and multidrug resistance-associated protein are involved in the regulation of extracellular levels of the major antiepileptic drug carbamazepine in the brain. Neuroreport 12, 3557-3560 (2001).
    • (2001) Neuroreport , vol.12 , pp. 3557-3560
    • Potschka, H.1    Fedrowitz, M.2    Loscher, W.3
  • 51
    • 0034724324 scopus 로고    scopus 로고
    • Functional polymorphisms of the human multidrug-resistance gene: Multiple sequence variations and correlation of one allele with P-glycoprotein expression and activity in vivo
    • 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. USA 97, 3 473-3 478 (2000).
    • (2000) Proc. Natl Acad. Sci. USA 97 , pp. 3473-3478
    • Hoffmeyer, S.1    Burk, O.2    Von Richter, O.3
  • 52
    • 0035752933 scopus 로고    scopus 로고
    • The predictive value of MDR1 CYP2C9 and CYP2C19 polymorphisms for phenytoin plasma levels
    • Kerb R, Aynacioglu AS, Brockmoller J et al.: The predictive value of MDR1, CYP2C9, and CYP2C19 polymorphisms for phenytoin plasma levels. Pharmacogenomics J. 1, 204-210 (2001).
    • (2001) Pharmacogenomics J. , vol.1 , pp. 204-210
    • Kerb, R.1    Aynacioglu, A.S.2    Brockmoller, J.3
  • 53
    • 21444449353 scopus 로고    scopus 로고
    • Complex haplotypic effects of the ABCB1 gene on epilepsy treatment response
    • Hung CC, Tai JJ, Lin CJ, Lee MJ, Liou HH: Complex haplotypic effects of the ABCB1 gene on epilepsy treatment response. Pharmacogenomics 6, 411-417 (2005).
    • (2005) Pharmacogenomics , vol.6 , pp. 411-417
    • Hung, C.C.1    Tai, J.J.2    Lin, C.J.3    Lee, M.J.4    Liou, H.H.5
  • 54
    • 66849129225 scopus 로고    scopus 로고
    • Gene-wide tagging study of association between ABCB1 polymorphisms and multidrug resistance in epilepsy in Han Chinese
    • Kwan P, Wong V, Ng PW et al.: Gene-wide tagging study of association between ABCB1 polymorphisms and multidrug resistance in epilepsy in Han Chinese. Pharmacogenomics 10, 723-732 (2009).
    • (2009) Pharmacogenomics , vol.10 , pp. 723-732
    • Kwan, P.1    Wong, V.2    Ng, P.W.3
  • 56
    • 67649945708 scopus 로고    scopus 로고
    • Multidrug-resistant genotype (ABCB1) and seizure recurrence in newly treated epilepsy: Data from International Pharmacogenetic Cohorts
    • Szoeke C, Sills GJ, Kwan P et al.: Multidrug-resistant genotype (ABCB1) and seizure recurrence in newly treated epilepsy: data from International Pharmacogenetic Cohorts. Epilepsia 50(7), 1689-1696 (2009).
    • (2009) Epilepsia , vol.50 , Issue.7 , pp. 1689-1696
    • Szoeke, C.1    Sills, G.J.2    Kwan, P.3
  • 57
    • 0037431040 scopus 로고    scopus 로고
    • Association of multidrug resistance in epilepsy with a polymorphism in the drug-transporter gene ABCB1
    • 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. 348, 1442-1448 (2003).
    • (2003) N. Engl. J. Med. , vol.348 , pp. 1442-1448
    • Siddiqui, A.1    Kerb, R.2    Weale, M.E.3
  • 58
    • 37249003692 scopus 로고    scopus 로고
    • Association of MDR1 (C3435T) polymorphism and resistance to carbamazepine in epileptic patients from Turkey
    • Ozgon GO, Bebek N, Gul G, Cine N: Association of MDR1 (C3435T) polymorphism and resistance to carbamazepine in epileptic patients from Turkey. Eur. Neurol. 59, 67-70 (2008).
    • (2008) Eur. Neurol. , vol.59 , pp. 67-70
    • Ozgon, G.O.1    Bebek, N.2    Gul, G.3    Cine, N.4
  • 59
    • 33847284986 scopus 로고    scopus 로고
    • Association of a polymorphism in MDR1 C3435T with response to antiepileptic drug treatment in ethic Han Chinese children with epilepsy
    • Chen L, Liu CQ, Hu Y, Xiao ZT, Chen Y, Liao JX: Association of a polymorphism in MDR1 C3435T with response to antiepileptic drug treatment in ethic Han Chinese children with epilepsy. Zhongguo Dang Dai Er Ke Za Zhi 9, 11-14 (2007).
    • (2007) Zhongguo Dang Dai Er Ke Za Zhi , vol.9 , pp. 11-14
    • Chen, L.1    Liu, C.Q.2    Hu, Y.3    Xiao, Z.T.4    Chen, Y.5    Liao, J.X.6
  • 60
    • 34447619872 scopus 로고    scopus 로고
    • Association between ABCB1 C3435T polymorphism and drug-resistant epilepsy in Han Chinese
    • Kwan P, Baum L, Wong V et al.: Association between ABCB1 C3435T polymorphism and drug-resistant epilepsy in Han Chinese. Epilepsy Behav. 11, 112-117 (2007).
    • (2007) Epilepsy Behav. , vol.11 , pp. 112-117
    • Kwan, P.1    Baum, L.2    Wong, V.3
  • 61
    • 18244365827 scopus 로고    scopus 로고
    • Lack of association between the C3435T polymorphism in the human multidrug resistance (MDR1) gene and response to antiepileptic drug treatment
    • Sills GJ, Mohanraj R, Butler E et al.: Lack of association between the C3435T polymorphism in the human multidrug resistance (MDR1) gene and response to antiepileptic drug treatment. Epilepsia 46, 643-647 (2005).
    • (2005) Epilepsia , vol.46 , pp. 643-647
    • Sills, G.J.1    Mohanraj, R.2    Butler, E.3
  • 62
    • 33744547260 scopus 로고    scopus 로고
    • Lee SY Lack of association between C3435T nucleotide MDR1 genetic polymorphism and multidrug-resistant epilepsy
    • Kim DW, Kim M, Lee SK, Kang R, Lee SY Lack of association between C3435T nucleotide MDR1 genetic polymorphism and multidrug-resistant epilepsy. Seizure 15, 344-347 (2006).
    • (2006) Seizure , vol.15 , pp. 344-347
    • Kim, D.W.1    Kim, M.2    Lee, S.K.3    Kang, R.4
  • 63
    • 44749088921 scopus 로고    scopus 로고
    • Multidrug resistance in patients undergoing resective epilepsy surgery is not associated with C3435T polymorphism in the ABCB1 (MDR1) gene
    • Dericioglu N, Babaoglu MO, Yasar U, Bal IB, Bozkurt A, Saygi S: Multidrug resistance in patients undergoing resective epilepsy surgery is not associated with C3435T polymorphism in the ABCB1 (MDR1) gene. Epilepsy Res. 80, 42-46 (2008).
    • (2008) Epilepsy Res. , vol.80 , pp. 42-46
    • Dericioglu, N.1    Babaoglu, M.O.2    Yasar, U.3    Bal, I.B.4    Bozkurt, A.5    Saygi, S.6
  • 65
    • 51249085805 scopus 로고    scopus 로고
    • Association of ABCB1 genetic variants 3435C>T and 2677G>T to ABCB1 mRNA and protein expression in brain tissue from refractory epilepsy patients
    • Mosyagin I, Runge U, Schroeder HW et al.: Association of ABCB1 genetic variants 3435C>T and 2677G>T to ABCB1 mRNA and protein expression in brain tissue from refractory epilepsy patients. Epilepsia 49, 1555-1561 (2008).
    • (2008) Epilepsia , vol.49 , pp. 1555-1561
    • Mosyagin, I.1    Runge, U.2    Schroeder, H.W.3
  • 66
    • 46949108804 scopus 로고    scopus 로고
    • The infuence of C3435T polymorphism of ABCB1 gene on penetration of phenobarbital across the blood-brain barrier in patients with generalized epilepsy
    • Basic S, Hajnsek S, Bozina N et al.: The infuence of C3435T polymorphism of ABCB1 gene on penetration of phenobarbital across the blood-brain barrier in patients with generalized epilepsy. Seizure 17, 524-530 (2008).
    • (2008) Seizure , vol.17 , pp. 524-530
    • Basic, S.1    Hajnsek, S.2    Bozina, N.3
  • 67
    • 33745155394 scopus 로고    scopus 로고
    • ABCB1 polymorphisms infuence the response to antiepileptic drugs in Japanese epilepsy patients
    • Seo T, Ishitsu T, Ueda N et al.: ABCB1 polymorphisms infuence the response to antiepileptic drugs in Japanese epilepsy patients. Pharmacogenomics 7, 551-561 (2006).
    • (2006) Pharmacogenomics , vol.7 , pp. 551-561
    • Seo, T.1    Ishitsu, T.2    Ueda, N.3
  • 68
    • 60949100347 scopus 로고    scopus 로고
    • Lack of association between ABCB1 ABCG2, and ABCC2 genetic polymorphisms and multidrug resistance in partial epilepsy
    • 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. 84, 86-90 (2009).
    • (2009) Epilepsy Res. , vol.84 , pp. 86-90
    • Kim, D.W.1    Lee, S.K.2    Chu, K.3
  • 69
    • 34447501746 scopus 로고    scopus 로고
    • Therapeutic drug monitoring and clinical outcomes in epileptic Egyptian patients: A gene polymorphism perspective study
    • Ebid AH, Ahmed MM, Mohammed SA: Therapeutic drug monitoring and clinical outcomes in epileptic Egyptian patients: a gene polymorphism perspective study. Ther. Drug Monit. 29, 305-312 (2007).
    • (2007) Ther. Drug Monit. , vol.29 , pp. 305-312
    • Ebid, A.H.1    Ahmed, M.M.2    Mohammed, S.A.3
  • 70
    • 33847366654 scopus 로고    scopus 로고
    • The controversial association of ABCB1 polymorphisms in refractory epilepsy: An analysis of multiple SNPs in an Irish population
    • Shahwan A, Murphy K, Doherty C et al.: The controversial association of ABCB1 polymorphisms in refractory epilepsy: an analysis of multiple SNPs in an Irish population. Epilepsy Res. 73, 192-198 (2007).
    • (2007) Epilepsy Res. , vol.73 , pp. 192-198
    • Shahwan, A.1    Murphy, K.2    Doherty, C.3
  • 71
    • 0024372376 scopus 로고
    • Phenytoin and carbamazepine: Potential-and frequency-dependent block of Na currents in mammalian myelinated nerve fbers
    • Schwarz JR, Grigat G: Phenytoin and carbamazepine: potential-and frequency-dependent block of Na currents in mammalian myelinated nerve fbers. Epilepsia 30, 286-294 (1989).
    • (1989) Epilepsia , vol.30 , pp. 286-294
    • Schwarz, J.R.1    Grigat, G.2
  • 72
    • 20244368950 scopus 로고    scopus 로고
    • Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin
    • 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. USA 102, 5507-5512 (2005).
    • (2005) Proc. Natl Acad. Sci. USA , vol.102 , pp. 5507-5512
    • Tate, S.K.1    Depondt, C.2    Sisodiya, S.M.3
  • 74
    • 44849130765 scopus 로고    scopus 로고
    • A functional polymorphism in the SCN1A gene is not associated with carbamazepine dosages in Austrian patients with epilepsy
    • 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 49, 1108-1109 (2008).
    • (2008) Epilepsia , vol.49 , pp. 1108-1109
    • Zimprich, F.1    Stogmann, E.2    Bonelli, S.3
  • 75
    • 64049095461 scopus 로고    scopus 로고
    • A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures
    • Schlachter K, Gruber-Sedlmayr U, Stogmann E et al.: A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures. Neurology 72, 974-978 (2009).
    • (2009) Neurology , vol.72 , pp. 974-978
    • Schlachter, K.1    Gruber-Sedlmayr, U.2    Stogmann, E.3
  • 76
    • 56149108008 scopus 로고    scopus 로고
    • Multidrug resistance in epilepsy and polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A: Correlation among phenotype, genotype, and mRNA expression
    • Kwan P, Poon WS, Ng HK et al.: 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 18, 989-998 (2008).
    • (2008) Pharmacogenet. Genomics , vol.18 , pp. 989-998
    • Kwan, P.1    Poon, W.S.2    Ng, H.K.3
  • 78
    • 20744457438 scopus 로고    scopus 로고
    • An epilepsy mutation in the b 1 subunit of the voltage-gated sodium channel results in reduced channel sensitivity to phenytoin
    • Lucas PT, Meadows LS, Nicholls J, Ragsdale DS: An epilepsy mutation in the b 1 subunit of the voltage-gated sodium channel results in reduced channel sensitivity to phenytoin. Epilepsy Res. 64, 77-84 (2005).
    • (2005) Epilepsy Res. , vol.64 , pp. 77-84
    • Lucas, P.T.1    Meadows, L.S.2    Nicholls, J.3    Ragsdale, D.S.4
  • 79
    • 48549089911 scopus 로고    scopus 로고
    • SCN1A SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus
    • Sun H, Zhang Y, Liang J et al.: SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus. J. Hum. Genet. 53, 769-774 (2008).
    • (2008) J. Hum. Genet. , vol.53 , pp. 769-774
    • Sun, H.1    Zhang, Y.2    Liang, J.3
  • 80
    • 27744517989 scopus 로고    scopus 로고
    • Lack of an association between candidate gene loci and idiopathic generalized epilepsy in Kuwaiti Arab children
    • Haider MZ, Habeeb Y, Al-Nakkas E et al.: Lack of an association between candidate gene loci and idiopathic generalized epilepsy in Kuwaiti Arab children. J. Biomed. Sci. 12, 815-818 (2005).
    • (2005) J. Biomed. Sci. , vol.12 , pp. 815-818
    • Haider, M.Z.1    Habeeb, Y.2    Al-Nakkas, E.3
  • 81
    • 14344277590 scopus 로고    scopus 로고
    • + channel a II subunit gene Na(v) 1.2 in a patient with febrile and afebrile seizures causes channel dysfunction
    • + channel a II subunit gene Na(v) 1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. Proc. Natl Acad. Sci. USA 98, 6384-6389 (2001).
    • (2001) Proc. Natl Acad. Sci. USA , vol.98 , pp. 6384-6389
    • Sugawara, T.1    Tsurubuchi, Y.2    Agarwala, K.L.3
  • 82
    • 34249803830 scopus 로고    scopus 로고
    • SCN2A mutations and benign familial neonatal-infantile seizures: The phenotypic spectrum
    • Herlenius E, Heron SE, Grinton BE et al.: SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum. Epilepsia 48, 1138-1142 (2007).
    • (2007) Epilepsia , vol.48 , pp. 1138-1142
    • Herlenius, E.1    Heron, S.E.2    Grinton, B.E.3


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