Development of individualized medicine for epilepsy based on genetic information

Expert Review of Clinical Pharmacology

Volumn 1, Issue 5, 2008, Pages 661-681

  Kaneko, Sunao ^a   Yoshida, Shuichi ^a   Kanai, Kazuaki ^b   Yasui Furukori, Norio ^a   Iwasa, Hiroto ^a  

^a HIROSAKI UNIVERSITY   (Japan)

^b CHIBA UNIVERSITY   (Japan)

Author keywords

ATP binding cassette transporter; Epilepsy; Epilepsy animal model; Gene chip; Individualized medicine; Ion channel gene; Pharmacogenetic testing; Receptor gene

Indexed keywords

4 AMINOBUTYRIC ACID; 4 AMINOBUTYRIC ACID RECEPTOR; ANTICONVULSIVE AGENT; BARBITURIC ACID DERIVATIVE; BENZODIAZEPINE DERIVATIVE; BIOLOGICAL MARKER; CALCIUM CHANNEL; CARBAMAZEPINE; DIAZEPAM; ETHOSUXIMIDE; ETIRACETAM; FELBAMATE; G PROTEIN COUPLED RECEPTOR; GABAPENTIN; GLYCOPROTEIN P; LAMOTRIGINE; NICOTINIC RECEPTOR; OXCARBAZEPINE; PHENOBARBITAL; PHENYTOIN; POTASSIUM CHANNEL; RETIGABINE; SODIUM CHANNEL; SULTIAME; TIAGABINE; TOPIRAMATE; UNINDEXED DRUG; VALPROIC ACID; VIGABATRIN; ZONISAMIDE;

BLOOD BRAIN BARRIER; DISEASE MODEL; DISEASE RESISTANCE; DRUG EFFICACY; DRUG EXCRETION; DRUG HALF LIFE; DRUG MECHANISM; DRUG METABOLISM; DRUG POTENTIATION; DRUG RESPONSE; ENZYME ACTIVITY; EPILEPSY; ETHNIC DIFFERENCE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; NEUROTRANSMISSION; NONHUMAN; PHARMACODYNAMICS; PHARMACOGENETICS; PHENOTYPE; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; STEVENS JOHNSON SYNDROME; TOXIC EPIDERMAL NECROLYSIS;

EID: 55649124088     PISSN: 17512433     EISSN: None     Source Type: Journal    
DOI: 10.1586/17512433.1.5.661     Document Type: Review

References (207)

1. Berg AT. Epidemiologic aspects of epilepsy. In: The Treatment of Epilepsy (4th Edition). Wyllie E (Ed.). Lippincott Williams & Wilkins, PA, USA 109-116 (2006).
2. Temkin NR. Anti-epileptogenesis and seizure prevention trials with anti-epileptic drugs: meta-analysis of controlled trials. Epilepsia 42, 515-524 (2001).
3. Schmidt D, Löscher W. How effective is surgery to cure seizures in drug-resistant temporal lobe epilepsy? Epilepsy Res. 56(2-3), 85-89 (2003).
4. Baulac S. Gourfinkel-An J, Picard F et al. A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. Am. J. Hum. Genet. 65, 1078-1085 (1999).
5. +) on chromosome 2q24-q33. Am. J. Hum. Genet. 65, 1396-1400 (1999).
6. +2. Nat. Genet. 24, 343-345 (2000).
7. Escayg A, Heils A, MacDonald BT, Haug K, Sander T, Meisler MH. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus and prevalence of variants in patients with epilepsy. Am. J. Hum. Genet. 68, 866-873 (2001).
8. Wallace RH, Scheffer IE, Barnett S et al. Neuronal sodium-channel α-1-subunit mutations in generalized epilepsy with febrile seizures plus. Am. J. Hum. Genet. 68, 859-865 (2001).
9. Lossin C, Wang DW, Rhodes TH, Vanoye CG, George AL Jr. Molecular basis of an inherited epilepsy. Neuron 34, 877-884 (2002).
10. Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am. J. Hum. Genet. 68, 1327-1332 (2001).
11. Sugawara T, Mazaki-Miyazaki E, Ito M et al. Na-v-l.1 mutations cause febrile seizures associated with afebrile partial seizures. Neurology 57, 703-705 (2001).
12. Ohmori I, Ouchida M, Ohtsuka Y, Oka E, Shimizu K. Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem. Biophys. Res. Commun. 295, 17-23 (2002).
13. Claes L, Ceulemans B, Audenaert D et al. De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum. Mutat. 21, 615-621 (2003).
14. Fujiwara T, Sugawara T, Mazaki-Miyazaki E et al. Mutations of sodium channel α-subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain 126, 531-546 (2003).
15. Tate SK, Singh R, Hung CC et al. A common polymorphism in the SCN1A gene associates with phenytoin serum levels ar maintenance dose. Pharmacogenet. Genomics 16, 721-726 (2006).
16. Heinzen EL, Yoon W, Tare 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. 80, 876-883 (2007).
17. Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA. SCN1A mutations and epilepsy. Hum. Mutat. 25, 535-542 (2005).
18. Dichgans M, Freilinger T, Eckstein G et al. Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet 366, 371-377 (2005).
19. Mantegazza M, Gambardella A, Rusconi R et al. Identification of an Na(v) 1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures. Proc Natl Acad. Sci. USA 102, 18177-18182 (2005).
20. Mulley JC, Nelson P, Guerrero S et al. A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. Neurology 67, 1094-1095 (2006).
21. 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). Epilepsia 45(2), 140-148 (2004).
22. Dlugos DJ, Ferraro TN, Buono RJ. Novel de novo mutation of a conserved SCN1A amino-acid residue (R1596). Pediatr. Neurol. 37(4), 303-305 (2007).
23. Heron SE, Crossland KM, Andermann E et al. Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet 360, 851-852 (2002).
24. Berkovic SF, Heron SE, Giordano L et al. Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann. Neurol. 55, 550-557 (2004).
25. Malacarne M, Gennaro E, Madia F et al. Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity. Am. J. Hum. Genet. 68, 1521-1526 (2001).
26. Weiss LA, Escayg A, Kearney JA et al. Sodium channels SCN1A, SCN2A and SCN3A in familial autism. Mol. Psychiatry 8(2), 186-194 (2003).
27. Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus: a genetic disorder with heterogeneous clinical phenotypes. Brain 120, 479-490 (1997).
28. 1 subunit gene SCN1B. Nat. Genet. 19, 366-370 (1998).
29. Tammaro P, Conti F, Moran O. Modulation of sodium current in mammalian cells by an epilepsy-correlated β-subunit mutation. Biochem. Biophys. Res. Commun. 291, 1095-1101 (2002).
30. Wallace RH, Scheffer IE, Parasivam G et al. Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. Neurology 58, 1426-1429 (2002).
31. Audenaert D, Claes L, Ceulemans B, Lofgren A, Van Broeckhoven C, De Jonghe P. A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. Neurology 61, 854-856 (2003).
32. Singh NA, Charlier C, Stauffer D et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat. Genet. 18, 25-29 (1998).
33. Wang Q, Curren ME, Splawski I et al. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat. Genet. 12, 17-23 (1996).
34. Biervert C, Schroeder BC, Kubisch C et al. A potassium channel mutation in neonatal human epilepsy. Science 279, 406-409 (1998).
35. Berkovic SF, Kennerson ML, Howell RA, Scheffer IE, Hwang PA, Nicholson GA. Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20. Arch. Neurol. 51, 1125-1128 (1994).
36. Biervert C, Steinlein OK. Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions. Hum. Genet. 104, 234-240 (1999).
37. Dei Giudice EM, Coppola G, Scuccimarra G, Cirillo G, Bellini G, Pascotto A. Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor. Eur. J. Hum. Genet. 8, 994-997 (2000).
38. + channel. Proc. Natl Acad. Sci. USA 98, 12272-12277 (2001).
39. Borgatti R, Zucca C, Cavallini A et al. A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. Neurology 63, 57-65 (2004).
40. Dedek K, Fusco L, Teloy N, Steinlein OK. Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense nmtation in the fifth transmembrane region of KCNQ2. Epilepsy Res. 54, 21-27 (2003).
41. Bassi MT, Balottin U, Panzeri C et al. Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC). Neurogenetics 6, 185-193 (2005).
42. Zimprich F, Ronen GM, Stogmann W et al. Andreas Rett and benign familial neonatal convulsions revisited. Neurology 67, 864-866 (2006).
43. Charlier C, Singh NA, Ryan SG et al. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat. Genet. 18, 53-55 (1998).
44. Hirose S, Zenri F, Akiyoshi H et al. A novel mutation of KCNQ3 (c.925T→C) in a Japanese family with benign familial neonatal convulsions. Ann. Neurol. 7(6), 822-826 (2000).
45. Li H, Li N, Shen L et al. A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions. Epilepsy Res. 79(1), 1-5 (2008).
46. 1A calcium channel gene CACNA1A and idiopathic generalized epilepsy. Neurology 56, 1245-1246 (2001).
47. Chen Y, Lu J, Pan H et al. Association between genetic variation of CACNA1H and childhood absence epilepsy. Ann. Neurol. 54(2), 239-243 (2003).
48. Liang J, Zhang Y, Wang J et al. New variants in the CACNA1H gene identified in childhood absence epilepsy. Neurosci. Lett. 406(1-2), 27-32 (2006).
49. Chen Y, Lu J, Zhang Y et al. T-type calcium channel gene α (1G) is not associated with childhood absence epilepsy in the Chinese Han population. Neurosci. Lett. 24, 341(1), 29-32 (2003).
50. Singh B, Monteil A, Bidaud I et al. Mutational analysis of CACNA1G in idiopathic generalized epilepsy. Hum. Mutat. 28(5), 524-525 (2007).
51. Escayg A, De Waard M, Lee DD et al. Coding and noncoding variation of the: human calcium-channel β(4)-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am. J. Hum. Genet. 66, 1531-1539 (2000).
52. Cossette P, Liu L, Brisebois K et al. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat. Genet. 31, 184-189 (2002).
53. A receptor α-1-subunit is associated with absence epilepsy. Ann. Neurol. 59, 983-987 (2006).
54. A, receptors is a susceptibility locus for generalized epilepsies. Hum. Mol. Genet. 13, 1315-1319 (2004).
55. A) receptor dysfunction in epilepsy: a mutation in the γ-2-subunit gene. Nat. Genet. 28, 46-48 (2001).
56. A) receptor γ-2-subunit in childhood absence epilepsy and febrile seizures. Nat. Genet. 28, 49-52 (2001).
57. 2 subunit in a family with generalized epilepsy with febrile seizures plus. Am. J. Hum. Genet. 70, 530-536 (2002).
58. Kananura C, Haug K, Sander T et al. A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. Arch. Neurol. 59, 1137-1141 (2002).
59. Audenaert D, Schwartz E, Claeys KG et al. A novel GABRG2 mutation associated with febrile seizures. Neurology 67, 687-690 (2006).
60. Aridon P, Marini C, Di Resta C et al. Increased sensitivity of the neuronal nicotinic receptor α-2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. Am. J. Hum. Genet. 79, 342-350 (2006).
61. Phillips HA, Scheffer IE, Berkovic SF, Hollway GE, Sutherland GR, Mulley JC. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2. Nat. Genet. 10, 117-118 (1995).
62. Steinlein OK, Mulley JC, Propping P et al. A missense mutation in the neuronal nicotinic acetylcholine receptor α-4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat. Genet. 11, 201-203 (1995).
63. Steinlein OK, Magnusson A, Stoodt J et al. An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum. Molec. Genet. 6, 943-947 (1997).
64. Hirose S, Iwata H, Akiyoshi H et al. A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. Neurology 53, 1749-1753 (1999).
65. Cho Y-W, Motamedi GK, Laufenberg I et al. A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. Arch. Neurol. 60, 1625-1632 (2003).
66. Feng Y, Niu T, Xing H et al. A common haplotype of the nicotine acetylcholine receptor α-4 subunit gene is associated with vulnerability to nicotine addiction in men. Am. J. Hum. Genet. 75, 112-121 (2004).
67. Elmslie F, Williamson MP, Rees M et al. Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q. Medizinische Genet. 9, 15 (1997).
68. De Fusco M, Becchetti A, Patrignani A et al. The nicotinic receptor β-2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat. Genet. 26, 275-276 (2000).
69. Phillips HA, Favre I, Kirkpatrick M et al. CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am. J. Hum. Genet. 68, 225-231 (2001).
70. Nakayama J, Fu Y-H, Clark AM et al. A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. Ann. Neurol. 52, 654-657 (2002).
71. Nakayama J, Yamamoto N, Hamano K et al. Linkage and association of febrile seizures to the IMPA2 gene on human chromosome 18. Neurology 63, 1803-1807 (2004).
72. Suzuki T, Delgado-Escueta AV, Aguan K et al. Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat. Genet. 36, 842-849 (2004).
73. Stogmann E, Lichtner P, Baumgartner C et al. Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations. Neurology 67, 2029-2031 (2006).
74. Kalachikov S, Evgrafov O, Ross B et al. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat. Genet. 30, 335-341 (2002).
75. Gu W, Brodtkorb E, Steinlein OK. LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures. Ann. Neurol. 52, 364-367 (2002).
76. Fertig E, Lincoln A, Martinuzzi A, Mattson RH, Hisama FM. Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features. Neurology 60, 1687-1690 (2003).
77. Chabrol E, Popescu C, Gourfinkel-An I et al. Two novel epilepsy-linked mutations leading to a loss of function of LGI1. Arch. Neurol. 64, 217-222 (2007).
78. Morante-Redolat JM, Gorostidi-Pagola A, Piquer-Sirerol S et al. Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. Hum. Molec. Genet. 11, 1119-1128 (2002).
79. Michelucci R, Mecarelli O, Bovo G et al. A de novo LGI1 mutation causing idiopathic partial epilepsy with telephone-induced seizures. Neurology 68, 2150-2151 (2007).
80. Yoshida S, Miyashita A, Kuwano R et al. Genome-wide identification of febrile seizure and related epilepsy phenotype loci. Epilepsy Seizure 1(1), 30-39 (2008).
81. Wang JW, Kurahashi H, Ishii A et al. Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy. Epilepsia (2008) (Epub ahead of print).
82. Meisler MH, Kearney JA. Sodium channel mutations in epilepsy and other neurological disorders. J. Clin. Invest. 115(8), 2010-2017 (2005).
83. Singh NA, Westenskow P, Charlier C et al. KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. Brain 126(Pt 12), 2726-2737 (2003).
84. Medina MT, Suzuki T, Alonso ME et al. Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy. Neurology 70(22 Pt 2), 2137-2144 (2008).
85. Saitsu H, Kato M, Mizuguchi T et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat. Genet. 40(6), 782-188 (2008).
86. Kanai K, Hirose S, Oguni H et al. Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity. Neurology 63 (2), 329-334 (2004).
87. Cavalleri GL, Weale ME, Shianna KV et al. Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. Lancet Neurol. 6(11), 970-980 (2007).
88. Lucarini N, Verroti A, Napolioni V, Bosco G, Curatolo P. Genetic polymorphisms and idiopathic generalized epilepsies. Pediatr. Neurol. 37, 157-164 (2007).
89. Heron SE, Scheffer IE, Berkovic SF, Dibbens LM, Mully JC. Channelopathies in idiopathic epilepsy. Neurotherapeutics 4, 295-304 (2007).
90. Dube CM, Brewster AL, Richichi C, Zha Q, Baram T. Fever, febrile seizures and epilepsy. Trends Neurosci. 30(10), 490-496 (2007).
91. Meldrum BS, Rogawski MA. Molecular targets for anti-epileptic drug development. Neurotherapeutics 4(1), 18-61 (2007).
92. Armijo JA, Shushtarian M, Valdizan EM, Cuadrado A, de las Cuevas I, Adin J. Ion channels and epilepsy. Curr. Pharm. Des. 11(15), 1975-2003 (2005).
93. Kaneko S, Nau H. Mechanisms of action of valproate. In: Clinical Pharmacology of Valproate (2nd Edition). Kaneko S, Nau H (Eds). Life Science, Tokyo, Japan 16-26 (2006).
94. Rogawski MA, Löscher W. The neurobiology of anti-epileptic drugs. Nat. Rev. Neurosci. 5(7), 553-564 (2004).
95. White HS, Smith MD, Wilcox KS. Mechanisms of action of anti-epileptic drugs. Int. Rev. Neurobiol. 81, 85-110 (2007).
96. Macdonald RL, Kelly KM. Anti-epileptic drug mechanisms of action. Epilepsia 36(Suppl. 2), S2-S12 (1995).
97. Lang DG, Wang CM, Cooper BR. Lamotrigine, phenytoin and carbamazepine interactions on the sodium current present in N4TG1 mouse neuroblastoma cells. J. Pharmacol. Exp. Ther. 266(2), 829-835 (1993).
98. Pisani A, Stefani A, Siniscalchi A, Mercuri NB, Bernardi G, Calabresi P. Electrophysiological actions of felbamate on rat striatal neurones. Br. J. Pharmacol. 116(3), 2053-2061 (1995).
99. Wamil AW, Schmutz M, Portet C, Feldmann KF, McLean MJ. Effects of oxcarbazepine and 10-hydroxycarbamazepine on action potential firing and generalized seizures. Eur. J. Pharmacol. 271(2-3), 301-308 (1994).
100. + channel α subunit. J. Biol. Chem. 276(1), 20-27 (2001).
101. Schauf CL. Zonisamide enhances slow sodium inactivation in Myxicola. Brain Res. 413(1), 185-188 (1987).
102. Zona C, Ciotti MT, Avoli M. Topiramate attenuates voltage-gated sodium currents in rat cerebellar granule cells. Neurosci. Lett. 231(3), 123-126 (1997).
103. + channels in neuronal cells. Eur. J. Pharmacol. 336(2-3), 243-249 (1997).
104. Rundfeldt C, Netzer R. The novel anticonvulsant retigabine activates M-currents in Chinese hamster ovary-cells tranfected with human KCNQ2/3 subunits. Neurosci Lett. 282(1-2), 73-76 (2000).
105. Tatulian L, Delmas P, Abogadie FC, Brown DA. Activation of expressed KCNQ potassium currents and native neuronal M-type potassium currents by the anti-convulsant drug retigabine. J. Neurosci. 21(15), 5535-5545 (2001).
106. Main MJ, Cryan JE, Dupere JR, Cox B, Clare JJ, Burbidge SA. Modulation of KCNQ2/3 potassium channels by the novel anticonvulsant retigabine. Mol. Pharmacol. 58(2), 253-262 (2000).
107. Wickenden AD, Yu W, Zou A, Jegla T, Wagoner PK. Retigabine, a novel anti-convulsant, enhances activation of KCNQ2/Q3 potassium channels. Mol. Pharmacol. 58(3), 591-600 (2000).
108. Guerrini R, Parmeggiani L. Topiramate and its clinical applications in epilepsy. Expert Opin. Pharmacother. 7(6), 811-823 (2006).
109. A)-mediated responses and activation of a potassium conductance. Neuropharmacology 42 (2), 210-220 (2002).
110. Coulter DA, Huguenard JR, Prince DA. Characterization of ethosuximide reduction of low-threshold calcium current in thalamic neurons. Ann. Neurol. 25(6), 582-593 (1989).
111. Suzuki S, Kawakami K, Nishimura S et al. Zonisamide blocks T-type calcium channel in cultured neurons of rat cerebral cortex. Epilepsy Res. 12(1), 21-27 (1992).
112. Kelly KM, Gross RA, Macdonald RL. Valproic acid selectively reduces the low-threshold (T) calcium current in rat nodose neurons. Neurosci. Lett. 116(1-2), 233-238 (1990).
113. 2d subunit of a calcium channel. J. Biol. Chem. 271(10), 5768-5776 (1996).
114. Stefani A, Spadoni F, Bernardi G. Voltage-activated calcium channels: targets of anti-epileptic drug therapy? Epilepsia 38(9), 959-965 (1997).
115. ++ influx in dissociated amygdala neurons. Synapse 29(4), 355-362 (1998).
116. 2+ current in pyramidal neurones of rat hippocampal slices. Neurosci. Lett. 306(1-2), 5-8 (2001).
117. Lukyanetz EA, Shkryl VM, Kostyuk PG. Selective blockade of N-type calcium channels by levetiracetam. Epilepsia 43 (1), 9-18 (2002).
118. Rigo JM, Hans G, Nguyen L et al. The anti-epileptic drug levetiracetam reverses the inhibition by negative allosteric modulators of neuronal GABA- and glycine-gated currents. Br. J. Pharmacol. 136(5), 659-672 (2002).
119. Twyman RE, Rogers CJ, Macdonald RL. Differential regulation of γ-aminobutyric acid receptor channels by diazepam and phenobarbital. Ann. Neurol. 25(3), 213-220 (1989).
120. White HS, Brown SD, Woodhead JH, Skeen GA, Wolf HH. Topiramate enhances GABA-mediated chloride flux and GABA-evoked chloride currents in murine brain neurons and increases seizure threshold. Epilepsy Res. 28(3), 167-179 (1997).
121. Suzdak PD, Jansen JA. A review of the preclinical pharmacology of tiagabine: a potent and selective anticonvulsant GABA uptake inhibitor. Epilepsia 36(6), 612-626 (1995).
122. Hosford DA, Wang Y. Utility of the lethargic (lh/lh) mouse model of absence seizures in predicting the effects of lamotrigine, vigabatrin, tiagabine, gabapentin, and topiramate against human absence seizures. Epilepsia 38 (4), 408-414 (1997).
123. White HS, Brown SD, Woodhead JH, Skeen GA, Wolf HH. Topiramate modulates GABA-evoked currents in murine cortical neurons by a nonbenzodiazepine mechanism. Epilepsia 41(Suppl. 1), S17-S20 (2000).
124. Angehagen M, Ben-Menachem E, Shank R, Ronnback L, Hansson E. Topiramate modulation of kainite-induced calcium currents is inversely related to channel phosphorylation level. J. Neurochem. 88(2), 320-325 (2004).
125. Coulter DA. Mossy fiber zinc and temporal lobe epilepsy: pathological association with altered 'epileptic' γ-aminobutyric acid A receptors in dentate granule cells. Epilepsia 41(Suppl. 6), S96-S99 (2000).
126. Skradski S, White HS. Topiramate blocks kainate-evoked cobalt influx into cultured neurons. Epilepsia 41 (Suppl. 1), S45-S47 (2000).
127. Kleckner NW, Glazewski JC, Chen CC, Moscrip TD. Subtype-selective antagonism of N-methyl-D-aspartate receptors by felbamate: insights into the mechanism of action. J. Pharmacol. Exp. Ther. 289(2), 886-894 (1999).
128. Harty TP, Rogawski MA. Felbamate block of recombinant N-methyl-D-aspartate receptors: selectivity for the NR2B subunit. Epilepsy Res. 39(1), 47-55 (2000).
129. Leach MJ, Marden CM, Miller AA. Pharmacological studies on lamotrigine, a novel potential anti-epileptic drug: II. Neurochemical studies on the mechanism of action. Epilepsia 27(5), 490-497 (1986).
130. Mizuno K, Okada M, Murakami T et al. Effects of carbamazepine on acetylcholine release and metabolism. Epilepsy Res. 40(2-3), 187-195 (2000).
131. Murakami T, Okada M, Kawata Y, Zhu G, Kamata A, Kaneko S. Determination of effects of anti-epileptic drugs on SNAREs-mediated hippocampal monoamine release using in vivo microdialysis. Br. J. Pharmacol. 134(3), 507-520 (2001).
132. Okada M, Zhu G, Yoshida S, Kanai K, Hirose S, Kaneko S. Exocytosis mechanism as a new targeting site for mechanisms of action of anti-epileptic drugs. Life Sci. 7(4-5), 465-473 (2002).
133. Kaneko S, Okada M, Mizuno K et al. Mechanisms of mood stabilizing effects of anti-epileptic drugs: differences between acute and chronic effects of anti-epileptic drugs on monoaminergic and acetylcholinergic functions. Ann. Rep. Pharmacopsychiat. Res. Found. 26, 107-117 (1995).
134. Taylor CP, Gee NS, Su TZ et al. A summary of mechanistic hypotheses of gabapentin pharmacology. Epilepsy Res. 29(3), 233-349 (1998).
135. 2+-releasing systems. Neuroscience 134(1), 233-246 (2005).
136. Lynch BA, Lambeng N, Nocka K et al. The synaptic vesicle protein SV2A is the binding site for the anti-epileptic drug levetiracetam. Proc. Natl Acad. Sci. USA 101 (26), 9861-9866 (2004).
137. Kaneko S, Iwasa H, Yasui-Furukori N et al. Individualized medicine for epilepsy based upon genetic polymorphisms, annual report for integrated research of medical and surgical therapies for epilepsy. Research Project of Ministry of Health, Labor and Welfare Research Grant for Neuropsychiatric Disorders (16-3A), 87-94 (2007).
138. Chiron C, Marchand MC, Tran A et al. Stiripentol in severe myoclonic epilepsy in infancy: a randomised placebo-controlled syndrome-dedicated trial. STICLO study group. Lancet 356(9242), 1638-1642 (2000).
139. Hirose S, Okada M, Zhu G et al. Studies on the pathogeneses underlying epilepsy using model animals bearing abnormality identified in human epilepsy. Ann. Rep. Jpn. Epi. Res. Found. 18, 49-54 (2007).
140. 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(15), 5507-5512 (2005).
141. Abe T, Seo T, Ishitsu T et al. Association between SCN1A polymorphism and carbamazepine-resistant epilepsy. Br. J. Clin. Pharmacol. (2008) (Epub ahead of print).
142. + channels in hippocampal neurons of control and chronically epileptic rats. Eur. J. Neurosci. 17(12), 2648-2658, (2003).
143. 1 subunit of the voltage-gated sodium channel results in reduced channel sensitivity to phenytoin. Epilepsy Res. 64 (3), 77-84 (2005).
144. Chung WH, Hung SI, Hong HS et al. Medical genetics: a marker for Stevens-Johnson syndrome. Nature 428(6982), 486 (2004).
145. Lonjou C, Thomas L, Borot N et al. A marker for Stevens-Johnson syndrome: ethnicity matters. Pharmacogenomics J. 6(4), 265-268 (2006).
146. Alfirevic A, Jorgensen AL, Williamson PR et al. HLA-B locus in Caucasian patients with carbamazepine hypersensitivity. Pharmacogenomics 7(6), 813-818 (2006).
147. Klotz U. The role of pharmacogenetics in the metabolism of anti-epileptic drugs: pharmacokinetic and therapeutic implications. Clin. Pharmacokinet. 46(4), 271-279 (2007).
148. Wen X, Wang JS, Kivistö KT, Neuvonen PJ, Backman JT. In vitro evaluation of valproic acid as an inhibitor of human cytochrome P450 isoforms: preferential inhibition of cytochrome P450 2C9 (CYP2C9). Br. J. Clin. Pharmacol. 52(5), 547-553 (2001).
149. Richens A. Clinical pharmacokinetics of gabapentin. In: New Trends in Epilepsy Management: the Role of Gabapentin Chinese source. Chadwick D (Ed.). Royal Society of Medicine Services, London, UK 41-46 (1993).
150. Pellock JM, Glauser TA, Bebin EM et al. Pharmacokinetic study of levetiracetam in children. Epilepsia 42(12), 1574-1579 (2001).
151. Hung CC, Lin CJ, Chen CC, Chang CJ, Liou HH. Dosage recommendation of phenytoin for patients with epilepsy with different CYP2C9/CYP2C19 polymorphisms. Ther. Drug Monit. 26(5), 534-540 (2004).
152. 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(2), 107-112 (2005).
153. 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(3), 448-452 (2007)
154. 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 (12), 1317-1323 (1998).
155. Soga Y, Nishimura F, Ohtsuka Y et al. CYP2C polymorphisms, phenytoin metabolism and gingival overgrowth in epileptic subjects. Life Sci. 74(7), 827-834 (2004).
156. Nishimura F, Naruishi H, Naruishi K et al. Cathepsin-L, a key molecule in the pathogenesis of drug-induced and I-cell disease-mediated gingival overgrowth: a study with cathepsin-L-deficient mice. Am. J. Pathol. 161(6), 2047-2052 (2002).
157. 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 (11-12), 821-825 (2000).
158. 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(1), 118-121 (2007).
159. 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. 3(6), 335-342 (2003).
160. Kiang TK, Ho PC, Anari MR, Tong V, Abbott FS, Chang TK. Contribution of CYP2C9, CYP2A6, and CYP2B6 to valproic acid metabolism in hepatic microsomes from individuals with the CYP2C9*1/*1 genotype. Toxicol. Sci. 94(2), 261-271 (2006).
161. Andreasen AH, Brøsen K, Damkier P. A comparative pharmacokinetic study in healthy volunteers of the effect of carbamazepine and oxcarbazepine on CYP3A4. Epilepsia 48 (3), 490-496 (2007).
162. Okada Y, Seo T, Ishitu T et al. Population estimation regarding the effects of cytochrome P450 2C19 and 3A4 polymorphisms on zonisamide clearance. Ther. Drug Monit. (2008) (In Press).
163. Kosaki K, Tamura K, Sato R, Samejima H, Tanigawara Y, Takahashi T. A major influence of CYP2C19 genotype on the steady-state concentration of N-desmethylclobazam. Brain Dev. 26(8), 530-534 (2004).
164. Seo T, Nagata R, Ishitu T et al. Cytochrome P450 2C19 polymorphisms have an impact on the efficacy of clobazam therapy. Pharmacogenetics (2008) (In Press).
165. Hidaka M, Okumura M, Fujita K et al. Effects of pomegranate juice on human cytochrome p450 3A (CYP3A) and carbamazepine pharmacokinetics in rats. Drug Metab. Dispos. 33(5), 644-648 (2005).
166. Mouly SJ, Matheny C, Paine MF et al. Variation in oral clearance of saquinavir is predicted by CYP3A5*1 genotype but not by enterocyte content of cytochrome P450 3A5. Clin. Pharmacol Ther. 78(6), 605-618, (2005).
167. Yu KS, Cho JY, Jang IJ et al. Effect of the CYP3A5 genotype on the pharmacokinetics of intravenous midazolam during inhibited and induced metabolic states. Clin. Pharmacol. Ther. 76(2), 104-112 (2004).
168. Seo T, Nakada N, Ueda N, Hagiwara T, Hashimoto N, Nakagawa K. Effect of CYP3A5*3 on carbamazepine pharmacokinetics in Japanese patients with epilepsy. Clin. Pharmacol. Ther. 79, 509-510 (2006).
169. Myrand S, Sekiguchi K, Man M et al. Pharmacokinetics/genotype associations for major cytochrome P450 enzymes in native and first- and third-generation Japanese populations: comparison with Korean, Chinese, and Caucasian populations. Clin. Pharmacol. Ther. (2008) (Epub ahead of print).
170. Yasui-Furukori N, Kaneda A, Iwashima K et al. Association between cytochrome P450 (CYP) 2C19 polymorphisms and harm avoidance in Japanese. Am. J. Med. Genet. B 144B, 724-727 (2007).
171. Yamaori S, Yamazaki H, Iwano S et al. Ethnic differences between Japanese and Caucasians in the expression levels of mRNAs for CYP3A4, CYP3A5 and CYP3A7: lack of co-regulation of the expression of CYP3A in Japanese livers. Xenobiotica 35(1), 69-83 (2005).
172. 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(3), 287-292 (1997).
173. Stubbins MJ, Harries LW, Smith G, Tarbit MH, Wolf CR. Genetic analysis
174. Ravindranath V, Kommaddi RP, Pai HV. Unique cytochromes P450 in human brain: implication in disease pathogenesis. J. Neural Transm. (Suppl.) 70, 167-171 (2006).
175. Rieder CR, Parsons RB, Fitch NJ et al. Human brain cytochrome P450 1B1: immunohistochemical localization in human temporal lobe and induction by dimethylbenz(a)anthracene in astrocytoma cell line (MOG-G-CCM). Neurosci. Lett. 278(3), 177-180 (2000).
176. Miksys S, Lerman C, Shields PG et al. Smoking, alcoholism and genetic olymorphisms alter CYP2B6 levels in human brain. Neuropharmacology 45(1), 22-32 (2003).
177. Siegle I, Fritz P, Eckhardt K et al. Cellular localization and regional distribution of CYP2D6 mRNA and protein expression in human brain. Pharmacogenetics 11 (3), 237-245 (2001).
178. Miksys S, Tyndale RF. The unique regulation of brain cytochrome P450 2 (CYP2) family enzymes by drugs and genetics. Drug Metab. Rev. 36(2), 313-333 (2004)
179. Voirol P, Jonzier-Perey M, Porchet F et al. Cytochrome P-450 activities in human and rat brain microsomes. Brain Res. 855(2), 235-243 (2000).
180. Al-Anizy M, Horley NJ, Kuo CW et al. Cytochrome P450 Cyp4x1 is a major P450 protein in mouse brain. FEBS J. 273(5), 936-947 (2006).
181. Meyer RP, Gehlhaus M, Knoth R, Volk B. Expression and function of cytochrome p450 in brain drug metabolism. Curr. Drug Metab. 8(4), 297-306 (2007).
182. Strobel HW, Thompson CM, Antonovic L. Cytochromes P450 in brain: function and significance. Curr. Drug Metab. 2(2), 199-214 (2001).
183. Gehlhaus M, Schmitt N, Volk B, Meyer RP. Anti-epileptic drugs affect neuronal androgen signaling via a cytochrome P450-dependent pathway. J. Pharmacol. Exp. Ther. 322(2), 550-559 (2007).
184. Isojärvi JI, Taubøll E, Herzog AG. Effect of anti-epileptic drugs on reproductive endocrine function in individuals with epilepsy. CNS Drugs 19(3), 207-223 (2005).
185. Meyer RP, Gehlhaus M, Knoth R, Volk B. Expression and function of cytochrome p450 in brain drug metabolism. Curr. Drug Metab. 8(4), 297-306 (2007).
186. Sisodiya SM, Lin W-R, Harding BN, Squier MV, Thom M. Drug resistance in epilepsy: expression of drug resistance proteins in common causes of refractory epilepsy. Brain 125, 22-31 (2002).
187. Vogelgesang S, Kunert-Keil C, Cascorbi I et al. Expression of multidrug transporters in dysembryoplastic neuroepithelial tumors causing intractable epilepsy. Clin. Neuropathol. 23(5), 223-231 (2004).
188. Baltes S, Gastens AM, Fedrowitz M, Potschka H, Kaever V, Losher W. Differences in the transport of the anti-epileptic drugs phenytoin, levetiracetam and carbamazepine by human and mouse P-glycoprotein. Neuropharmacology 52, 333-346 (2007).
189. Baltes S, Fedrowitz M, Tortós CL, Potschka H, Löscher W. Valproic acid is not a substrate for P-glycoprotein or multidrug resistance proteins 1 and 2 in a number of in vitro and in vivo transport assays. J. Pharmacol. Exp. Ther. 320(1), 331-343 (2007).
190. Seo T, Ishitsu T, Ueda N et al. ABCB1 polymorphisms influence the response to anti-epileptic drugs in Japanese epilepsy patients. Pharmacogenomics 7(4), 551-561 (2006).
191. Siddiqui A, Kerb R, Weale ME et al. Association of multidrug resistance in epilepsy with a polymorphism in drug-transporter gene ABCB1. N. Engl. J. Med. 348(15), 1442-1448 (2003).
192. Zimprich F, Sunder-Plassmann R, Stogmann E et al. Association of an ABCB1 gene haplotype with pharmacoresistance in temporal lobe epilepsy. Neurology 3 (6), 1087-1089 (2004).
193. 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(4), 232-242 (2007).
194. Sills GJ, Kwan P, Butler E, de Lange EC, van den Berg DJ, Brodie MJ. P-glycoprotein-mediated efflux of anti-epileptic drugs: preliminary studies in mdrla knockout mice. Epilepsy Behav. 3(5), 427-432 (2002).
195. Seo T, Ishitsu T, Oniki K et al. ABCC2 haplotype is not associated with drug-resistant epilepsy. J. Pharm. Pharmacol. 60, 1-6 (2008).
196. Löscher W, Potschka H. Drug resistance in brain diseases and the role of drug efflux transporters. Nat. Rev. Neurosci. 6(8), 591-602 (2005)
197. Kimchi-Sarfaty C, Oh JM, Kim IW et al. A 'silent' polymorphism in the MDR1 gene changes substrate specificity. Science 26(315), 525-528 (2007).
198. Sisodiya SM, Goldstein DB. Drug resistance in epilepsy: more twists in the tale. Epilepsia 48(12), 2369-2370 (2007).
199. Awasthi S, Sharma R, Singhal SS, Zimniak P, Awasthi YC. RLIP76, a novel transporter catalyzing ATP-dependent efflux of xenobiotics. Drug Metab. Dispos. 30(12), 1300-1310 (2002).
200. Awasthi S, Hallence KL, Fazio V et al. RLIP76, a non-ABC transporter, and drug resistance in epilepsy. BMC Neurosci. 6, 61 (2005).
201. Sharma R, Awasthi YC, Yang Y, Sharma A, Singhal SS, Awasthi S. Energy dependent transport of xenobiotics and its relevance to multidrug resistance. Curr. Cancer Drug Targets 3(2), 89-107 (2003).
202. Soranzo N, Kelly L, Martinian L et al. Lack of support for a role for RLIP76 (RALBP1) in response to treatment or predisposition to epilepsy. Epilepsia 48, 674-683 (2007).
203. Leschziner GD, Jorgensen AL, Andrew T et al. The association between polymorphisms in RLIP76 and drug response in epilepsy. Pharmacogenomics 8(12), 1715-1722 (2007).
204. Sagvolden T, Russell VA, Aase H, Johansen EB, Farshbaf M. Rodent models of attention- deficit/hyperactivity disorder. Biol. Psychiatry 57 (11), 1239-1247 (2005).
205. Okada M, Zhu G, Yoshida S, Kaneko S. Generation of epilepsy model animal bearing a genetic abnormality identified in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) of human (II). Ann. Rep. Pharmacopsyc. Res. 38, 191-196 (2005).
206. Zhu G, Okada M, Yoshida S et al. Rats harboring S284L Chnra4 mutation show attenuation of synaptic and extrasynaptic GABAergic transmission and exhibit the nocturnal frontal lobe epilepsy phenotype. J. Neuroscience (2008) (In Press).
207. Kojima T, Mukai W, Fuma D et al. Determination of genomic breakpoints in an epileptic patient using genotyping array. Biochem. Biophys. Res. Commun. 341(3), 792-796 (2006).