Genetics of drug resistance in epilepsy

Current Neurology and Neuroscience Reports

Volumn 5, Issue 4, 2005, Pages 307-311

  Sisodiya, Sanjay M ^a  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID RECEPTOR; ABC TRANSPORTER; ANTICONVULSIVE AGENT; APOLIPOPROTEIN E; INTERLEUKIN 1BETA; PRION PROTEIN; PRODYNORPHIN; SODIUM CHANNEL;

DRUG RESISTANCE; ENVIRONMENTAL FACTOR; EPILEPSY; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; NEUROTRANSMISSION; NORADRENERGIC SYSTEM; PHARMACOGENETICS; PHENOTYPE; PREDICTION; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 23844482080     PISSN: 15284042     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11910-005-0076-2     Document Type: Review

References (40)

1. Brodie MJ: Medical therapy of epilepsy: when to initiate treatment and when to combine? J Neurol 2005, 252:125-130.
2. Kwan P, Brodie MJ: Early identification of refractory epilepsy. N Engl J Med 2000, 342:314-319.
3. French J, Arrigo C: Rapid onset of action of levetiracetam in refractory epilepsy patients. Epilepsia 2005, 46:324-326.
4. Mulley JC, Scheffer IE, Petrou S, Berkovic SF: Channelopathies as a genetic cause of epilepsy. Curr Opin Neurol 2003, 16:171-176.
5. Ceulemans BP, Claes LR, Lagae LG: Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. Pediatr Neurol 2004, 30:236-243.
6. Kamiya K, Kaneda M, Sugawara T, et al.: A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. J Neurosci 2004, 24:2690-2698.
7. Remy S, Gabriel S, Urban BW, et al.: A novel mechanism underlying drug resistance in chronic epilepsy. Ann Neurol 2003, 53:469-479.
8. Ellerkmann RK, Remy S, Chen J, et al.: Molecular and functional changes in voltage-dependent Na(+) channels following pilocarpine-induced status epilepticus in rat dentate granule cells. Neuroscience 2003, 119:323-333.
9. Remy S, Urban BW, Elger CE, Beck H: Anticonvulsant pharmacology of voltage-gated Na+ channels in hippocampal neurons of control and chronically epileptic rats. Eur J Neurosci 2003, 17:2648-2658.
10. Tate SK, Depondt C, Sisodiya SM, et al.: Genetic predictors of clinical use of the anti-epileptic drugs phenytoin and carbamazepine. Proc Natl Acad Sci U S A 2005, 102:5507-5512.
11. Molinari F, Raas-Rothschild A, Rio M, et al.: Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. Am J Hum Genet 2005, 76:334-339.
12. Kanai K, Hirose S, Oguni H, et al.: Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity. Neurology 2004, 63:329-334.
13. Brandt C, Volk HA, Loscher W: Striking differences in individual anticonvulsant response to phenobarbital in rats with spontaneous seizures after status epilepticus. Epilepsia 2004, 45:1488-1497.
14. Fabene PF, Andrioli A, Priel MR, et al.: Fos induction and persistence, neurodegeneration, and interneuron activation in the hippocampus of epilepsy-resistant versus epilepsyprone rats after pilocarpine-induced seizures. Hippocampus 2004, 14:895-907.
15. Sisodiya SM: Mechanisms of antiepileptic drug resistance. Curr Opin Neurol 2003, 16:197-201.
16. Volk HA, Loscher W: Multidrug resistance in epilepsy: rats with drug-resistant seizures exhibit enhanced brain expression of P-glycoprotein compared with rats with drug-responsive seizures. Brain 2005, In press.
17. Majores M, Eils J, Wiestler OD, Becker AJ: Molecular profiling of temporal lobe epilepsy: comparison of data from human tissue samples and animal models. Epilepsy Res 2004, 60:173-178.
18. Goldstein DB, Tate SK, Sisodiya SM: Pharmacogenetics goes genomic. Nat Rev Genet 2003, 4:937-947.
19. Vezzani A, Sperk G: Overexpression of NPY and Y2 receptors in epileptic brain tissue: an endogenous neuroprotective mechanism in temporal lobe epilepsy? Neuropeptides 2004, 38:245-252.
20. Neale BM, Sham PC: The future of association studies: gene-based analysis and replication. Am J Hum Genet 2004, 75:353-362.
21. Tan NC, Mulley JC, Berkovic SF: Genetic association studies in epilepsy: "the truth is out there". Epilepsia 2004, 45:1429-1442.
22. Colhoun HM, McKeigue PM, Davey Smith G: Problems of reporting genetic associations with complex outcomes. Lancet 2003, 361:865-872.
23. Kanemoto K, Kawasaki J, Miyamoto T, et al.: Interleukin (IL)1beta, IL-1alpha, and IL-1 receptor antagonist gene polymorphisms in patients with temporal lobe epilepsy. Ann Neurol 2000, 47:571-574.
24. Stogmann E, Zimprich A, Baumgartner C, et al.: A functional polymorphism in the prodynorphin gene promotor is associated with temporal lobe epilepsy. Ann Neurol 2002, 51:260-263.
25. Gambardella A, Manna I, Labate A, et al.: GABA(B) receptor 1 polymorphism (G1465A) is associated with temporal lobe epilepsy. Neurology 2003, 60:560-563.
26. Walz R, Castro RM, Velasco TR, et al.: Surgical outcome in mesial temporal sclerosis correlates with prion protein gene variant. Neurology 2003, 61:1204-1210.
27. Briellmann RS, Torn-Broers Y, Busuttil BE, et al.: APOE epsilon4 genotype is associated with an earlier onset of chronic temporal lobe epilepsy. Neurology 2000, 55:435-437.
28. Weinshenker D, Szot P: The role of catecholamines in seizure susceptibility: new results using genetically engineered mice. Pharmacol Ther 2002, 94:213-233.
29. Depondt C, Cock HR, Healy DG, et al.: The -1021C->T DBH gene variant is not associated with epilepsy or antiepileptic drug response. Neurology 2004, 63:1497-1499.
30. Stein WD, Bates SE, Fojo T: Intractable cancers: the many faces of multidrug resistance and the many targets it presents for therapeutic attack. Curr Drug Targets 2004, 5:333-346.
31. Sisodiya SM, Heffernan J, Squier MV: Over-expression of P-glycoprotein in malformations of cortical development. Neuroreport 1999, 10:3437-3441.
32. Sisodiya SM, Lin WR, Harding BN, et al.: Drug resistance in epilepsy: expression of drug resistance proteins in common causes of refractory epilepsy. Brain 2002, 125:22-31.
33. Aronica E, Gorter JA, Jansen GH, et al.: Expression and cellular distribution of multidrug transporter proteins in two major causes of medically intractable epilepsy: focal cortical dysplasia and glioneuronal tumours. Neuroscience 2003, 118:417-429.
34. Aronica E, Gorter JA, Ramkema M, et al.: Expression and cellular distribution of multidrug resistance-related proteins in the hippocampus of patients with mesial temporal lobe epilepsy. Epilepsia 2004, 45:441-451.
35. Loscher W, Potschka H: Role of multidrug transporters in pharmacoresistance to antiepileptic drugs. J Pharmacol Exp Ther 2002, 301:7-14.
36. Rizzi M, Caccia S, Guiso G, et al.: Limbic seizures induce P-glycoprotein in rodent brain: functional implications for pharmacoresistance. J Neurosci 2002, 22:5833-5839.
37. Kwan P, Brodie MJ: Potential role of drug transporters in the pathogenesis of medically intractable epilepsy. Epilepsia 2005, 46:224-235.
38. 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, 348:1442-1448.
39. Tan NC, Heron SE, Scheffer IE, et al.: Failure to confirm association of a polymorphism in ABCB1 with multidrug-resistant epilepsy. Neurology 2004, 63:1090-1092.
40. Soranzo N, Cavalleri G, Wood NW, et al.: Identifying candidate causal variants responsible for altered activity of the ABCB1 multi-drug resistance gene product. Genome Res 2004, 14:1333-1344.