Free Access
Issue
Med Sci (Paris)
Volume 29, Number 2, Février 2013
Page(s) 189 - 193
Section M/S Revues
DOI https://doi.org/10.1051/medsci/2013292017
Published online 28 February 2013
  1. Loriot MA, Beaune P. La pharmacogénétique : le lien entre gènes et réponse aux médicaments. Med Sci (Paris) 2004 ; 20 : 634–636. [CrossRef] [EDP Sciences] [PubMed] [Google Scholar]
  2. Vogel F. Moderne Probleme der Humangenetik. Ergebn Inn Med Kinderheilkd 1959 ; 12 : 52–125. [CrossRef] [Google Scholar]
  3. Woelderink A, Ibarreta D, Hopkins MM, Rodriguez-Cerezo E. The current clinical practice of pharmacogenetic testing in Europe: TPMT and HER2 as case studies. Pharmacogenomics J 2006 ; 6 : 3–7. [CrossRef] [PubMed] [Google Scholar]
  4. Begley CE, Baker GA, Beghi E, et al. Cross-country measures for monitoring epilepsy care. Epilepsia 2007 ; 48 : 990–1001. [CrossRef] [PubMed] [Google Scholar]
  5. Reutens DC, Howell RA, Gebert KE, Berkovic SF. Validation of a questionnaire for clinical seizure diagnosis. Epilepsia 1992 ; 33 : 1065–1071. [CrossRef] [PubMed] [Google Scholar]
  6. Perucca P, Carter J, Vahle V, Gilliam FG. Adverse antiepileptic drug effects: toward a clinically and neurobiologically relevant taxonomy. Neurology 2009 ; 72 : 1223–1229. [CrossRef] [PubMed] [Google Scholar]
  7. 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 : 1126–1133. [CrossRef] [PubMed] [Google Scholar]
  8. Chung WH, Hung SI, Hong HS, et al. Medical genetics: a marker for Stevens-Johnson syndrome. Nature 2004 ; 428 : 86. [CrossRef] [Google Scholar]
  9. Devinsky O. Patients with refractory seizures. N Engl J Med 1999 ; 340 : 1565–1570. [CrossRef] [PubMed] [Google Scholar]
  10. Tan NC, Berkovic SF. The Epilepsy Genetic Association Database (epiGAD): analysis of 165 genetic association studies, 1996–2008. Epilepsia 2010 ; 51 : 686–689. [CrossRef] [PubMed] [Google Scholar]
  11. Pritchard JK, Stephens M, Rosenberg NA, Donnelly P. Association mapping in structured populations. Am J Hum Genet 2000 ; 67 : 170–181. [CrossRef] [PubMed] [Google Scholar]
  12. Loscher W, Sills G J. Drug resistance in epilepsy: why is a simple explanation not enough? Epilepsia 2007 ; 48 : 2370–2372. [CrossRef] [PubMed] [Google Scholar]
  13. 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. [CrossRef] [PubMed] [Google Scholar]
  14. Loscher W, Potschka H. Role of multidrug transporters in pharmacoresistance to antiepileptic drugs. J Pharmacol Exp Ther 2002 ; 301 : 7–14. [CrossRef] [PubMed] [Google Scholar]
  15. 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. [CrossRef] [PubMed] [Google Scholar]
  16. 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 : 898–903. [CrossRef] [PubMed] [Google Scholar]
  17. Haerian BS, Roslan H, Raymond AA, et al. ABCB1 C3435T polymorphism and the risk of resistance to antiepileptic drugs in epilepsy: a systematic review and meta-analysis. Seizure 2010 ; 19 : 339–346. [CrossRef] [PubMed] [Google Scholar]
  18. Nurmohamed L, Garcia-Bournissen F, Buono RJ, et al. Predisposition to epilepsy–does the ABCB1 gene play a role?. Epilepsia 2010 ; 51 : 1882–1885. [CrossRef] [PubMed] [Google Scholar]
  19. Baltes S, Fedrowitz M, Tortos CL, et al. 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 2007 ; 320 : 331–343. [CrossRef] [PubMed] [Google Scholar]
  20. Aynacioglu AS, Brockmoller J, Bauer S, et al. Frequency of cytochrome P450 CYP2C9 variants in a Turkish population and functional relevance for phenytoin. Br J Clin Pharmacol 1999 ; 48 : 409–415. [CrossRef] [PubMed] [Google Scholar]
  21. Depondt C, Godard P, Sens Espel R, et al. A candidate gene study of antiepileptic drug tolerability and efficacy identifies an association of CYP2C9 variants with phenytoin toxicity. Eur J Neurol 2011 ; 18 : 1153–1164. [CrossRef] [Google Scholar]
  22. Tate S K, 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 2005 ; 102 : 5507–5512. [CrossRef] [Google Scholar]
  23. Gambardella A, Marini C. Clinical spectrum of SCN1A mutations. Epilepsia 2009 ; 50 : 20–23. [CrossRef] [PubMed] [Google Scholar]
  24. Abe T, Seo T, Ishitsu T, et al. Association between SCN1A polymorphism and carbamazepine-resistant epilepsy. Br J Clin Pharmacol 2008 ; 66 : 304–307. [CrossRef] [PubMed] [Google Scholar]
  25. Hung SI, Chung WH, Jee SH, et al. Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions. Pharmacogenet Genomics 2006 ; 16 : 297–306. [CrossRef] [PubMed] [Google Scholar]
  26. Alfirevic A, Jorgensen AL, Williamson PR, et al. HLA-B locus in Caucasian patients with carbamazepine hypersensitivity. Pharmacogenomics 2006 ; 7 : 813–818. [CrossRef] [PubMed] [Google Scholar]
  27. Lonjou C, Thomas L, Borot N, et al. A marker for Stevens-Johnson syndrome: ethnicity matters. Pharmacogenomics J 2006 ; 6 : 265–268. [PubMed] [Google Scholar]
  28. McCormack M, Alfirevic A, Bourgeois S, et al. HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans. N Engl J Med 2011 ; 364 : 1134–1143. [CrossRef] [PubMed] [Google Scholar]
  29. 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 : 1034–1041. [CrossRef] [PubMed] [Google Scholar]
  30. Cirulli ET, Goldstein DB. Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet 2010 ; 11 : 415–425. [CrossRef] [PubMed] [Google Scholar]
  31. Roujeau JC, Gélard K, Bensussan A. Nécrolyse épidermique : Mécanisme de l’apoptose des kératinocytes. Med Sci (Paris) 2006 ; 22 : 188–191. [CrossRef] [EDP Sciences] [PubMed] [Google Scholar]

Current usage metrics show cumulative count of Article Views (full-text article views including HTML views, PDF and ePub downloads, according to the available data) and Abstracts Views on Vision4Press platform.

Data correspond to usage on the plateform after 2015. The current usage metrics is available 48-96 hours after online publication and is updated daily on week days.

Initial download of the metrics may take a while.