Page 71 - Read Online

Orsini et al. J Transl Genet Genom 2018;2:16. I https://doi.org/10.20517/jtgg.2018.14 Page 15 of 18

41. Tate SK, Depondt C, Sisodiya SM, Cavalleri GL, Schorge S, 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;102:5507-12.
42. Baghel R, Grover S, Kaur H, Jajodia A, Rawat C, et al. Evaluating the role of genetic variants on first-line antiepileptic drug response in
North India: significance of SCN1A and GABRA1 gene variants in phenytoin monotherapy and its serum drug levels. CNS Neurosci Ther
2016;22:740-57.
43. Krueger DA, Care MM, Holland K, Agricola K, Tudor C, et al. Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis.
N Engl J Med 2010;363:1801-11.
44. Haerian BS, Baum L, Kwan P, Tan HJ, Raymond AA, et al. SCN1A, SCN2A and SCN3A gene polymorphisms and responsiveness to
antiepileptic drugs: a multicenter cohort study and meta-analysis. Pharmacogenomics 2013;14:1153-66.
45. Brunklaus A, Ellis R, Reavey E, Forbes GH, Zuberi SM. Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet
syndrome. Brain 2012;135:2329-36.
46. Dalic L, Mullen SA, Roulet Perez E, Scheffer I. Lamotrigine can be beneficial in patients with Dravet syndrome. Dev Med Child Neurol
2015;57:200-2.
47. Zhou BT, Zhou QH, Yin JY, Li GL, Qu J, 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;18:566-72.
48. Qu J, Zhang Y, Yang ZQ, Mao XY, Zhou BT, 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;20:140-6.
49. Lynch JM, Tate SK, Kinirons P, Weale ME, Cavalleri GL, et al. No major role of common SV2A variation for predisposition or
levetiracetam response in epilepsy. Epilepsy Res 2009;83:44-51.
50. Guo Y, Yan KP, Qu Q, Qu J, Chen ZG, et al. Common variants of KCNJ10 are associated with susceptibility and anti-epileptic drug
resistance in Chinese genetic generalized epilepsies. PLoS One 2015;10:e0124896.
51. Piana C, Antunes Nde J, Della Pasqua O. Implications of pharmacogenetics for the therapeutic use of antiepileptic drugs. Expert Opin Drug
Metab Toxicol 2014;10:341-58.
52. Cheng CY, Su SC, Chen CH, Chen WL, Deng ST, et al. HLA associations and clinical implications in T-Cell mediated drug hypersensitivity
reactions: an updated review. J Immunol Res 2014;2014:565320.
53. Chung WH, Hung SI, Hong HS, Hsih MS, Yang LC, et al. Medical genetics: a marker for Stevens-Johnson syndrome. Nature 2004;428:486.
54. Tangamornsuksan W, Chaiyakunapruk N, Somkrua R, Lohitnavy M, Tassaneeyakul W. Relationship between the HLA-B*1502 allele and
carbamazepine-induced Stevens-Johnson syndrome and toxic epidermal necrolysis: a systematic review and meta-analysis. JAMA Dermatol
2013;149:1025-32.
55. Chen P, Lin JJ, Lu CS, Ong CT, Hsieh PF, et al. Carbamazepine-induced toxic effects and HLA-B*1502 screening in Taiwan. N Engl J Med
2011;364:1126-33.
56. Amstutz U, Shear NH, Rieder MJ, Hwang S, Fung V, 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;55:496-506.
57. Leckband SG, Kelsoe JR, Dunnenberger HM, George AL Jr, Tran E, et al. Clinical pharmacogenetics implementation consortium guidelines
for HLA-B genotype and carbamazepine dosing. Clin Pharmacol Ther 2013;94:324-8.
58. Ferrell PB Jr, McLeod HL. Carbamazepine, HLA-B*1502 and risk of Stevens-Johnson syndrome and toxic epidermal necrolysis: US FDA
recommendations. Pharmacogenomics 2008;9:1543-6.
59. Cheung YK, Cheng SH, Chan EJ, Lo SV, Ng MH, et al. HLA-B alleles associated with severe cutaneous reactions to antiepileptic drugs in
Han Chinese. Epilepsia 2013;54:1307-14.
60. Hung SI, Chung WH, Liu ZS, Chen CH, Hsih MS, et al. Common risk allele in aromatic antiepileptic-drug induced Stevens-Johnson
syndrome and toxic epidermal necrolysis in Han Chinese. Pharmacogenomics 2010;11:349-56.
61. McCormack M, Alfirevic A, Bourgeois S, Farrell JJ, Kasperavičiūtė D, et al. HLA-A*3101 and carbamazepine-induced hypersensitivity
reactions in Europeans. N Engl J Med 2011;364:1134-43.
62. Ozeki T, Mushiroda T, Yowang A, Takahashi A, Kubo M, 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 2010;20:1034-41.
63. 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;4:246-53.
64. Genin E, Chen DP, Hung SI, Sekula P, Schumacher M, 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;14:281-8.
65. Plumpton CO, Yip VL, Alfirevic A, Marson AG, Pirmohamed M, et al. Cost-effectiveness of screening for HLA-A*31:01 prior to initiation
of carbamazepine in epilepsy. Epilepsia 2015;56:556-63.
66. Wang W, Hu FY, Wu XT, An DM, Yan B, 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;37:16-9.
67. Wang Q, Sun S, Xie M, Zhao K, Li X, et al. Association between the HLA-B alleles and carbamazepine-induced SJS/TEN: a meta-analysis.
Epilepsy Res 2017;135:19-28.
68. Striano P. Epilepsy towards the next decade: new trends and hopes in epileptology. Cham: Springer; 2014.
69. Reid CA, Jackson GD, Berkovic SF, Petrou S. New therapeutic opportunities in epilepsy: a genetic perspective. Pharmacol Ther
2010;128:274-80.