[ad_1]
Hesselink D. Genetic polymorphisms of the CYP3A4, CYP3A5, and MDR-1 genes and pharmacokinetics of the calcineurin inhibitors cyclosporine and tacrolimus. Clin Pharmacol Therapeutics. 2003;74:245–54.
Relling MV, Evans WE. Pharmacogenomics within the clinic. Nature 2015;526:343–50.
Sim SC, Kacevska M, Ingelman-Sundberg M. Pharmacogenomics of drug-metabolizing enzymes: a current replace on medical implications and endogenous results. Pharmacogenomics J. 2013;13:1–11.
Relling MV, Klein TE, Gammal RS, Whirl-Carrillo M, Hoffman JM, Caudle KE. The medical pharmacogenetics implementation consortium: 10 years later. Clin Pharmacol Ther. 2020;107:171–5.
Financial institution PCD, Caudle KE, Swen JJ, Gammal RS, Whirl‐Carrillo M, Klein TE, et al. Comparability of the rules of the medical pharmacogenetics implementation Consortium and the Dutch pharmacogenetics Working group. Clin Pharm Ther. 2018;103:599–618.
Visscher H, Ross CJD, Rassekh SR, Barhdadi A, Dubé MP, Al-Saloos H, et al. Canadian Pharmacogenomics Community for Drug Security Consortium Pharmacogenomic prediction of anthracycline-induced cardiotoxicity in youngsters. J Clin Oncol. 2012;30:1422–8.
Picard N, Boyer JC, Etienne‐Grimaldi MC, Barin‐Le GC, Thomas F, Loriot MA. Pharmacogenetics‐based mostly customized remedy: ranges of proof and proposals from the French Community of Pharmacogenetics (RNPGx). Therapie. 2017;72:185–92.
Whirl-Carrillo M, McDonagh EM, Hebert JM, Gong L, Sangkuhl Ok, Thorn CF, et al. Pharmacogenomics Data for Personalised Drugs. Clin Pharm Ther. 2012;92:414–7.
Thijs RD, Surges R, O’Brien TJ, Sander JW. Epilepsy in adults. Lancet. 2019;393:689–701.
Orsini A, Zara F, Striano P. Current advances in epilepsy genetics. Neurosci Lett. 2018;667:4–9.
Symonds JD, Zuberi SM, Johnson MR. Advances in epilepsy gene discovery and implications for epilepsy prognosis and therapy. Curr Opin Neurol. 2017;30:193–9.
Bruel A-L, Levy J, Elenga N, Defo A, Favre A, Lucron H, et al. INTU -related oral-facial-digital syndrome kind VI: A confirmatory report. Clin Genet. 2018;93:1205–9.
Thevenon J, Duffourd Y, Masurel-Paulet A, Lefebvre M, Feillet F, El Chehadeh-Djebbar S, et al. Diagnostic odyssey in extreme neurodevelopmental problems: towards medical whole-exome sequencing as a first-line diagnostic check. Clin Genet. 2016;89:700–7.
Bruel A-L, Nambot S, Quéré V, Vitobello A, Thevenon J, et al. Elevated diagnostic and new genes identification consequence utilizing analysis reanalysis of singleton exome sequencing. Eur J Hum Genet. 2019;27:1519–31.
Cousin MA, Matey ET, Blackburn PR, Boczek NJ, McAllister TM, Kruisselbrink TM, et al. Pharmacogenomic findings from medical complete exome sequencing of diagnostic odyssey sufferers. Mol Genet Genom Med. 2017;5:269–79.
Blom S. trigeminal neuralgia: its therapy with a brand new anticonvulsant drug (G-32883). Lancet. 1962;279:839–40.
Arif H, Buchsbaum R, Weintraub D, Koyfman S, Salas-Humara C, Bazil CW, et al. Comparability and predictors of rash related to 15 antiepileptic medication. Neurology. 2007;68:1701–9.
Karnes JH, Rettie AE, Somogyi AA, Huddart R, Fohner AE, Formea CM, et al. Medical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C9 and HLA‐B Genotypes and Phenytoin Dosing: 2020 Replace. Clin. Pharmacol. Ther. 2020;96:542–8.
Locharernkul C, Loplumlert J, Limotai C, Korkij W, Desudchit T, Tongkobpetch S, et al. Carbamazepine and phenytoin induced Stevens-Johnson syndrome is related to HLA-B*1502 allele in Thai inhabitants. Epilepsia. 2008;49:2087–91.
Chung WH, Hung SI, Hong HS, Hsih MS, Yang LC, Ho HC, et al. A marker for Stevens–Johnson syndrome. Nature. 2004;428:486.
Anzenbacher P, Anzenbacherová E. Cytochromes P450 and metabolism of xenobiotics: CMLS. Cell Mol Life Sci. 2001;58:737–47.
Kidd RS, Curry TB, Gallagher S, Edeki T, Blaisdell J, Goldstein JA. Identification of a null allele of CYP2C9 in an African–American exhibiting toxicity to phenytoin. Pharmacogenetics Genomics. 2001;11:803–8.
Ingelman-Sundberg M. Genetic polymorphisms of cytochrome P450 2D6 (CYP2D6): medical penalties, evolutionary points and purposeful variety. Pharmacogenomics J. 2005;5:6–13.
Karnes JH, Rettie AE, Somogyi AA, Huddart R, Fohner AE, Formea CM, et al. Medical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C9 and HLA-B Genotypes and Phenytoin Dosing: 2020 Replace. Clin Pharmacol Therap. 2020;109:302–9.
Thauvin-Robinet C, Thevenon J, Nambot S, Delanne J, Kuentz P, Bruel AL, et al. Secondary actionable findings recognized by exome sequencing: anticipated impression on the organisation of care from the examine of 700 consecutive exams. Eur J Hum Genet. 2019;27:1197–214.
Ruden DM, Cingolani P, Patel VM, Coon M, Nguyen T, Land SJ, et al. Utilizing Drosophila melanogaster as a Mannequin for Genotoxic Chemical Mutational Research with a New Program, SnpSift. Entrance Gene. 2012;3:35.
Ka S, Lee S, Hong J, Cho Y, Sung J, Kim HN, et al. HLAscan: genotyping of the HLA area utilizing next-generation sequencing knowledge. BMC Bioinforma. 2017;18:1–11.
Giancarlo GM, Venkatakrishnan Ok, Granda BW, von Moltke LL, Greenblatt DJ. Relative contributions of CYP2C9 and 2C19 to phenytoin 4-hydroxylation in vitro: inhibition by sulfaphenazole, omeprazole, and ticlopidine. Eur J Clin Pharm. 2001;57:31–36.
Bajpai M, Roskos LK, Shen DD, Levy RH. Roles of cytochrome P4502C9 and cytochrome P4502C19 within the stereoselective metabolism of phenytoin to its main metabolite. Drug Metab Dispos. 1996;24:1401–3.
van der Weide J, Steijns LS, van Weelden MJ, de Haan Ok. The impact of genetic polymorphism of cytochrome P450 CYP2C9 on phenytoin dose requirement. Pharmacogenetics. 2001;11:87–91.
Kudo T, Endo Y, Taguchi R, Yatsu M, Ito Ok. Metronidazole reduces the expression of cytochrome P450 enzymes in HepaRG cells and cryopreserved human hepatocytes. Xenobiotica. 2015;45:413–9.
Fohner AE, Ranatunga DK, Thai KK, Lawson BL, Rischx N, Oni-Orisan A, et al. Assessing the medical impression of CYP2C9 pharmacogenetic variation on phenytoin prescribing follow and affected person response in an built-in well being system. Pharmacogenet Genomics. 2019;29:192–9.
Dorado P, López-Torres E, Peñas-Lledó EM, Martínez-Antón J, Llerena A. Neurological toxicity after phenytoin infusion in a pediatric affected person with epilepsy: affect of CYP2C9, CYP2C19 and ABCB1 genetic polymorphisms. Pharmacogenomics J. 2013;13:359–61.
Cresteil T, Beaune P, Kremers P, Celier C, Guengerich FP, Leroux J-P. Immunoquantification of epoxide hydrolase and cytochrome P-450 isozymes in fetal and grownup human liver microsomes. Eur J Biochem. 1985;151:345–50.
Koukouritaki SB, Manro JR, Marsh SA, Stevens JC, Rettie AE, McCarver DG. et al. Developmental Expression of Human Hepatic CYP2C9 and CYP2C19. J Pharm Exp Ther. 2004;308:965–74.
McCormack M, Alfirevic A, Bourgeois S, et al. HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans. N. Engl J Med. 2011;364:1134–43.
Yip VL, Marson AG, Jorgensen AL, Pirmohamed M, Alfirevic A. HLA genotype and carbamazepine-induced cutaneous antagonistic drug reactions: a scientific evaluate. Clin Pharm Ther. 2012;92:757–65.
Zhou Y, Krebs Ok, Milani L, Lauschke VM. World Frequencies of Clinically Essential HLA Alleles and Their Implications For the Value‐Effectiveness of Preemptive Pharmacogenetic Testing. Clin Pharmacol Ther. 2021;109:160–74.
Xue Y, Ankala A, Wilcox WR, Hegde MR. Fixing the molecular diagnostic testing conundrum for Mendelian problems within the period of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing. Genet Med. 2015;17:444–51.
[ad_2]
