{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T02:32:55Z","timestamp":1793154775660,"version":"4.5.0"},"reference-count":68,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pharmacogenomics J"],"published-print":{"date-parts":[[2026,10]]},"DOI":"10.1038\/s41397-026-00430-4","type":"journal-article","created":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T10:08:39Z","timestamp":1790849319000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The role of pharmacogenomics in epilepsy treatment: advancements in personalized medicine"],"prefix":"10.1038","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7091-3188","authenticated-orcid":false,"given":"Najmeh","family":"Ahangari","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2728-8265","authenticated-orcid":false,"given":"Mohammad","family":"Doosti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0317-7392","authenticated-orcid":false,"given":"Mojtaba","family":"Safi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1767-7873","authenticated-orcid":false,"given":"Narges","family":"Hashemi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5537-2763","authenticated-orcid":false,"given":"Shima","family":"Imannezhad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-0751-7866","authenticated-orcid":false,"given":"Bita","family":"Barazandeh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3858-7073","authenticated-orcid":false,"given":"Ehsan","family":"Ghayoor Karimiani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0569-1117","authenticated-orcid":false,"given":"Mehran","family":"Beiraghi Toosi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,10,1]]},"reference":[{"key":"430_CR1","doi-asserted-by":"publisher","first-page":"3717","DOI":"10.3390\/ijms20153717","volume":"20","author":"GD Naimo","year":"2019","unstructured":"Naimo GD, Guarnaccia M, Sprovieri T, Ungaro C, Conforti FL, And\u00f2 S, et al. A systems biology approach for personalized medicine in refractory epilepsy. Int J Mol Sci. 2019;20:3717.","journal-title":"Int J Mol Sci"},{"key":"430_CR2","doi-asserted-by":"publisher","first-page":"1069","DOI":"10.1111\/j.1528-1167.2009.02397.x","volume":"51","author":"P Kwan","year":"2010","unstructured":"Kwan P, Arzimanoglou A, Berg AT, Brodie MJ, Allen Hauser W, Mathern G, et al. Definition of drug resistant epilepsy: consensus proposal by the ad hoc task force of the ILAE commission on therapeutic strategies. Epilepsia. 2010;51:1069\u201377.","journal-title":"Epilepsia"},{"key":"430_CR3","doi-asserted-by":"publisher","first-page":"1441","DOI":"10.1517\/14656566.8.10.1441","volume":"8","author":"SK Tate","year":"2007","unstructured":"Tate SK, Sisodiya SM. Multidrug resistance in epilepsy: a pharmacogenomic update. Expert Opin Pharmacother. 2007;8:1441\u20139.","journal-title":"Expert Opin Pharmacother"},{"key":"430_CR4","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1111\/j.1528-1167.2006.00440.x","volume":"47","author":"AT Berg","year":"2006","unstructured":"Berg AT, Kelly MM. Defining intractability: comparisons among published definitions. Epilepsia. 2006;47:431\u20136.","journal-title":"Epilepsia"},{"key":"430_CR5","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1053\/seiz.2002.0593","volume":"11","author":"P Kwan","year":"2002","unstructured":"Kwan P, Brodie MJ. Refractory epilepsy: a progressive, intractable but preventable condition? Seizure. 2002;11:77\u201384.","journal-title":"Seizure"},{"key":"430_CR6","first-page":"81","volume":"1","author":"J Hauser","year":"2004","unstructured":"Hauser J, Leszczy\u0144ska-Rodziewicz A. Farmakogenetyka lek\u00f3w przeciwpsychotycznych. Psychiatria. 2004;1:81\u20139.","journal-title":"Psychiatria"},{"key":"430_CR7","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1097\/00019052-200304000-00013","volume":"16","author":"SM Sisodiya","year":"2003","unstructured":"Sisodiya SM. Mechanisms of antiepileptic drug resistance. Curr Opin Neurol. 2003;16:197\u2013201.","journal-title":"Curr Opin Neurol"},{"key":"430_CR8","doi-asserted-by":"publisher","first-page":"1442","DOI":"10.1056\/NEJMoa021986","volume":"348","author":"A Siddiqui","year":"2003","unstructured":"Siddiqui A, Kerb R, Weale ME, Brinkmann U, Smith A, Goldstein DB, et al. Association of multidrug resistance in epilepsy with a polymorphism in the drug-transporter gene ABCB1. N Engl J Med. 2003;348:1442\u20138.","journal-title":"N Engl J Med"},{"key":"430_CR9","doi-asserted-by":"publisher","first-page":"1087","DOI":"10.1212\/01.WNL.0000141021.42763.F6","volume":"63","author":"F Zimprich","year":"2004","unstructured":"Zimprich F, Sunder-Plassmann R, Stogmann E, Gleiss A, Dal-Bianco A, Zimprich A, et al. Association of an ABCB1 gene haplotype with pharmacoresistance in temporal lobe epilepsy. Neurology. 2004;63:1087\u20139.","journal-title":"Neurology"},{"key":"430_CR10","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1038\/nature12439","volume":"501","author":"AS Allen","year":"2013","unstructured":"Epi4K Consortium; Epilepsy Phenome\/Genome Project, Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, et al. De novo mutations in epileptic encephalopathies. Nature. 2013;501:217\u201321.","journal-title":"Nature"},{"key":"430_CR11","doi-asserted-by":"publisher","first-page":"898","DOI":"10.1038\/gim.2015.186","volume":"18","author":"KL Helbig","year":"2016","unstructured":"Helbig KL, Farwell Hagman KD, Shinde DN, Mroske C, Powis Z, Li S, et al. Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. Genet Med. 2016;18:898\u2013905.","journal-title":"Genet Med"},{"key":"430_CR12","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1111\/j.1600-0404.2005.00509.x","volume":"112","author":"I Scheffer","year":"2005","unstructured":"Scheffer I. The role of genetics and ethnicity in epilepsy management. Acta Neurol Scand. 2005;112:47\u201351.","journal-title":"Acta Neurol Scand"},{"key":"430_CR13","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1007\/s11094-023-02886-1","volume":"57","author":"M Ahmadimanesh","year":"2023","unstructured":"Ahmadimanesh M, Mohammadi S, Rouini MR, Moshiri M, Ahangari N, Hedjazi A, et al. Association between the post-mortem and poisoning concentration of tramadol and its main metabolite and genotype of CYP2D6. Pharm Chem J. 2023;57:327\u201335.","journal-title":"Pharm Chem J"},{"key":"430_CR14","doi-asserted-by":"publisher","first-page":"1441","DOI":"10.1016\/S0006-2952(03)00076-5","volume":"65","author":"BT Ethell","year":"2003","unstructured":"Ethell BT, Anderson GD, Burchell B. The effect of valproic acid on drug and steroid glucuronidation by expressed human UDP-glucuronosyltransferases. Biochem Pharmacol. 2003;65:1441\u20139.","journal-title":"Biochem Pharmacol"},{"key":"430_CR15","doi-asserted-by":"publisher","first-page":"S3","DOI":"10.1212\/WNL.63.10_suppl_4.S3","volume":"63","author":"GD Anderson","year":"2004","unstructured":"Anderson GD. Pharmacogenetics and enzyme induction\/inhibition properties of antiepileptic drugs. Neurology. 2004;63:S3\u2013S8.","journal-title":"Neurology"},{"key":"430_CR16","doi-asserted-by":"publisher","first-page":"226","DOI":"10.5694\/mja17.00951","volume":"208","author":"P Perucca","year":"2018","unstructured":"Perucca P, Scheffer IE, Kiley M. The management of epilepsy in children and adults. Med J Aust. 2018;208:226\u201333.","journal-title":"Med J Aust"},{"key":"430_CR17","doi-asserted-by":"publisher","first-page":"475","DOI":"10.1111\/epi.12550","volume":"55","author":"RS Fisher","year":"2014","unstructured":"Fisher RS, Acevedo C, Arzimanoglou A, Bogacz A, Cross JH, Elger CE, et al. ILAE official report: a practical clinical definition of epilepsy. Epilepsia. 2014;55:475\u201382.","journal-title":"Epilepsia"},{"key":"430_CR18","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1016\/j.eplepsyres.2017.11.015","volume":"139","author":"JJ Falco-Walter","year":"2018","unstructured":"Falco-Walter JJ, Scheffer IE, Fisher RS. The new definition and classification of seizures and epilepsy. Epilepsy Res. 2018;139:73\u20139.","journal-title":"Epilepsy Res"},{"key":"430_CR19","doi-asserted-by":"publisher","first-page":"512","DOI":"10.1111\/epi.13709","volume":"58","author":"IE Scheffer","year":"2017","unstructured":"Scheffer IE, Berkovic S, Capovilla G, Connolly MB, French J, Guilhoto L, et al. ILAE classification of the epilepsies: position paper of the ILAE commission for classification and terminology. Epilepsia. 2017;58:512\u201321.","journal-title":"Epilepsia"},{"key":"430_CR20","doi-asserted-by":"publisher","first-page":"1518","DOI":"10.1111\/epi.13854","volume":"58","author":"S Beretta","year":"2017","unstructured":"Beretta S, Carone D, Zanchi C, Bianchi E, Pirovano M, Trentini C, et al. Long\u2010term applicability of the new ILAE definition of epilepsy. Results from the PRO\u2010LONG study. Epilepsia. 2017;58:1518\u201323.","journal-title":"Epilepsia"},{"key":"430_CR21","doi-asserted-by":"publisher","first-page":"S12","DOI":"10.4103\/0972-2327.128644","volume":"17","author":"JrJ Engel","year":"2014","unstructured":"Engel JrJ. Approaches to refractory epilepsy. Ann Indian Acad Neurol. 2014;17:S12.","journal-title":"Ann Indian Acad Neurol"},{"key":"430_CR22","doi-asserted-by":"publisher","first-page":"1333","DOI":"10.1111\/epi.17237","volume":"63","author":"EC Wirrell","year":"2022","unstructured":"Wirrell EC, Nabbout R, Scheffer IE, Alsaadi T, Bogacz A, French JA, et al. Methodology for classification and definition of epilepsy syndromes with list of syndromes: report of the ILAE task force on nosology and definitions. Epilepsia. 2022;63:1333\u201348.","journal-title":"Epilepsia"},{"key":"430_CR23","doi-asserted-by":"publisher","first-page":"218","DOI":"10.1111\/joim.12322","volume":"277","author":"L Walker","year":"2015","unstructured":"Walker L, Mirza N, Yip V, Marson A, Pirmohamed M. Personalized medicine approaches in epilepsy. J Intern Med. 2015;277:218\u201334.","journal-title":"J Intern Med"},{"key":"430_CR24","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1146\/annurev-genom-090413-025419","volume":"15","author":"M Pirmohamed","year":"2014","unstructured":"Pirmohamed M. Personalized pharmacogenomics: predicting efficacy and adverse drug reactions. Annu Rev Genomics Hum Genet. 2014;15:349\u201370.","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"430_CR25","doi-asserted-by":"publisher","first-page":"R166","DOI":"10.1093\/hmg\/ddw246","volume":"25","author":"LR Cardon","year":"2016","unstructured":"Cardon LR, Harris T. Precision medicine, genomics and drug discovery. Hum Mol Genet. 2016;25:R166\u2013R72.","journal-title":"Hum Mol Genet"},{"key":"430_CR26","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1016\/j.cll.2016.05.006","volume":"36","author":"R Valdes","year":"2016","unstructured":"Valdes R, Yin DT. Fundamentals of pharmacogenetics in personalized, precision medicine. Clin Lab Med. 2016;36:447\u201359.","journal-title":"Clin Lab Med"},{"key":"430_CR27","doi-asserted-by":"publisher","first-page":"13302","DOI":"10.3390\/ijms222413302","volume":"22","author":"R Cacabelos","year":"2021","unstructured":"Cacabelos R, Naidoo V, Corzo L, Cacabelos N, Carril JC. Genophenotypic factors and pharmacogenomics in adverse drug reactions. Int J Mol Sci. 2021;22:13302.","journal-title":"Int J Mol Sci"},{"key":"430_CR28","doi-asserted-by":"publisher","first-page":"1276","DOI":"10.1111\/dmcn.14929","volume":"63","author":"S Byrne","year":"2021","unstructured":"Byrne S, Enright N, Delanty NJDM, Neurology C. Precision therapy in the genetic epilepsies of childhood. Dev Med Child Neurol. 2021;63:1276\u201382.","journal-title":"Dev Med Child Neurol"},{"key":"430_CR29","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1111\/epi.12433","volume":"55","author":"V Biton","year":"2014","unstructured":"Biton V, Berkovic SF, Abou\u2010Khalil B, Sperling MR, Johnson ME, Lu S. Brivaracetam as adjunctive treatment for uncontrolled partial epilepsy in adults: a phase III randomized, double\u2010blind, placebo\u2010controlled trial. Epilepsia. 2014;55:57\u201366.","journal-title":"Epilepsia"},{"key":"430_CR30","doi-asserted-by":"publisher","first-page":"1890","DOI":"10.1111\/epi.13212","volume":"56","author":"P Klein","year":"2015","unstructured":"Klein P, Schiemann J, Sperling MR, Whitesides J, Liang W, Stalvey T, et al. A randomized, double\u2010blind, placebo\u2010controlled, multicenter, parallel\u2010group study to evaluate the efficacy and safety of adjunctive brivaracetam in adult patients with uncontrolled partial\u2010onset seizures. Epilepsia. 2015;56:1890\u20138.","journal-title":"Epilepsia"},{"key":"430_CR31","doi-asserted-by":"publisher","first-page":"e40","DOI":"10.1111\/j.1528-1167.2011.03097.x","volume":"52","author":"I Manna","year":"2011","unstructured":"Manna I, Gambardella A, Bianchi A, Striano P, Tozzi R, Aguglia U, et al. A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy. Epilepsia. 2011;52:e40\u2013e4.","journal-title":"Epilepsia"},{"key":"430_CR32","doi-asserted-by":"publisher","first-page":"e0188978","DOI":"10.1371\/journal.pone.0188978","volume":"12","author":"L Ortega-Moreno","year":"2017","unstructured":"Ortega-Moreno L, Gir\u00e1ldez BG, Soto-Insuga V, Losada-Del Pozo R, Rodrigo-Moreno M, Alarc\u00f3n-Morcillo C, et al. Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes. PLoS One. 2017;12:e0188978.","journal-title":"PLoS One"},{"key":"430_CR33","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1016\/j.seizure.2010.01.002","volume":"19","author":"RP Saneto","year":"2010","unstructured":"Saneto RP, Lee I-C, Koenig MK, Bao X, Weng S-W, Naviaux RK, et al. POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. Seizure. 2010;19:140\u20136.","journal-title":"Seizure"},{"key":"430_CR34","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1111\/epi.12391","volume":"55","author":"P Kwan","year":"2014","unstructured":"Kwan P, Trinka E, Van Paesschen W, Rektor I, Johnson ME, Lu S. Adjunctive brivaracetam for uncontrolled focal and generalized epilepsies: results of a phase III, double\u2010blind, randomized, placebo\u2010controlled, flexible\u2010dose trial. Epilepsia. 2014;55:38\u201346.","journal-title":"Epilepsia"},{"key":"430_CR35","doi-asserted-by":"publisher","first-page":"420","DOI":"10.1002\/epi4.12349","volume":"4","author":"K Silvennoinen","year":"2019","unstructured":"Silvennoinen K, de Lange N, Zagaglia S, Balestrini S, Androsova G, Wassenaar M, et al. Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy. Epilepsia Open. 2019;4:420\u201330.","journal-title":"Epilepsia Open"},{"key":"430_CR36","doi-asserted-by":"publisher","DOI":"10.3389\/fphar.2024.1411487","volume":"15","author":"C-H Lin","year":"2024","unstructured":"Lin C-H, Ho C-J, Chen S-Y, Lu Y-T, Tsai M-H. Review of pharmacogenetics of antiseizure medications: focusing on genetic variants of mechanistic targets. Front Pharmacol. 2024;15:1411487.","journal-title":"Front Pharmacol"},{"key":"430_CR37","doi-asserted-by":"publisher","DOI":"10.3389\/fphar.2021.688386","volume":"12","author":"S Wolking","year":"2021","unstructured":"Wolking S, Campbell C, Stapleton C, McCormack M, Delanty N, Depondt C, et al. Role of common genetic variants for drug-resistance to specific anti-seizure medications. Front Pharmacol. 2021;12:688386.","journal-title":"Front Pharmacol"},{"key":"430_CR38","volume-title":"Phenytoin therapy and HLA-B*15:02 and CYP2C9 genotype","author":"L Dean","year":"2012","unstructured":"Dean L, Kane M. Phenytoin therapy and HLA-B*15:02 and CYP2C9 genotype. Bethesda (MD): National Center for Biotechnology Information (US); 2012."},{"key":"430_CR39","doi-asserted-by":"publisher","first-page":"547","DOI":"10.2217\/pgs-2017-0189","volume":"19","author":"Y Liu","year":"2018","unstructured":"Liu Y, Yu Y, Nie X, Zhao L, Wang X. Association between HLA-B*15:02 and oxcarbazepine-induced cutaneous adverse reaction: a meta-analysis. Pharmacogenomics. 2018;19:547\u201352.","journal-title":"Pharmacogenomics"},{"key":"430_CR40","doi-asserted-by":"publisher","first-page":"324","DOI":"10.1038\/clpt.2013.103","volume":"94","author":"SG Leckband","year":"2013","unstructured":"Leckband SG, Kelsoe JR, Dunnenberger HM, George AL Jr., Tran E, Berger R, et al. Clinical pharmacogenetics implementation consortium guidelines for HLA-B genotype and carbamazepine dosing. Clin Pharmacol Ther. 2013;94:324\u20138.","journal-title":"Clin Pharmacol Ther"},{"key":"430_CR41","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1002\/cpt.2008","volume":"109","author":"JH Karnes","year":"2021","unstructured":"Karnes JH, Rettie AE, Somogyi AA, Huddart R, Fohner AE, Formea CM, et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for CYP2C9 and HLA\u2010B genotypes and phenytoin dosing: 2020 update. Clin Pharmacol Ther. 2021;109:302\u20139.","journal-title":"Clin Pharmacol Ther"},{"key":"430_CR42","doi-asserted-by":"publisher","first-page":"664","DOI":"10.1002\/cpt.1006","volume":"104","author":"PE Empey","year":"2018","unstructured":"Empey PE, Stevenson JM, Tuteja S, Weitzel KW, Angiolillo DJ, Beitelshees AL, et al. Multisite investigation of strategies for the implementation of CYP2C19 genotype\u2010guided antiplatelet therapy. Clin Pharmacol Ther. 2018;104:664\u201374.","journal-title":"Clin Pharmacol Ther"},{"key":"430_CR43","doi-asserted-by":"publisher","first-page":"574","DOI":"10.1002\/cpt.1004","volume":"103","author":"EJ Phillips","year":"2018","unstructured":"Phillips EJ, Sukasem C, Whirl\u2010Carrillo M, M\u00fcller DJ, Dunnenberger HM, Chantratita W, et al. Clinical pharmacogenetics implementation consortium guideline for HLA genotype and use of carbamazepine and oxcarbazepine: 2017 update. Clin Pharmacol Ther. 2018;103:574\u201381.","journal-title":"Clin Pharmacol Ther"},{"key":"430_CR44","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1080\/14740338.2024.2416926","volume":"25","author":"S Huang","year":"2026","unstructured":"Huang S, Dong H, Luo D, Jiang J, Liu M, Wu J, et al. Adverse events associated with carbamazepine: a pharmacovigilance study using the FDA adverse event reporting system. Expert Opin Drug Saf. 2026;25:143\u201355.","journal-title":"Expert Opin Drug Saf"},{"key":"430_CR45","doi-asserted-by":"publisher","first-page":"2077","DOI":"10.1212\/WNL.0000000000001034","volume":"83","author":"Z Chen","year":"2014","unstructured":"Chen Z, Liew D, Kwan P. Effects of a HLA-B* 15: 02 screening policy on antiepileptic drug use and severe skin reactions. Neurology. 2014;83:2077\u201384.","journal-title":"Neurology"},{"key":"430_CR46","doi-asserted-by":"publisher","first-page":"15","DOI":"10.24191\/IJPNaCS.v5i2.02","volume":"5","author":"MZ Ahmad","year":"2022","unstructured":"Ahmad MZ, Othman MF. 3P\u2019s (pharmacokinetic, pharmacodynamic, and pharmacogenomic) of valproate: what\u2019s new? Int J Pharm Nutraceuticals Cosmet Sci. 2022;5:15\u201328.","journal-title":"Int J Pharm Nutraceuticals Cosmet Sci"},{"key":"430_CR47","doi-asserted-by":"publisher","first-page":"1761","DOI":"10.1111\/epi.17274","volume":"63","author":"EC Wirrell","year":"2022","unstructured":"Wirrell EC, Hood V, Knupp KG, Meskis MA, Nabbout R, Scheffer IE, et al. International consensus on diagnosis and management of Dravet syndrome. Epilepsia. 2022;63:1761\u201377.","journal-title":"Epilepsia"},{"key":"430_CR48","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1038\/s41576-024-00776-0","volume":"26","author":"Z Stark","year":"2025","unstructured":"Stark Z, Glazer D, Hofmann O, Rendon A, Marshall CR, Ginsburg GS, et al. A call to action to scale up research and clinical genomic data sharing. Nat Rev Genet. 2025;26:141\u20137.","journal-title":"Nat Rev Genet"},{"key":"430_CR49","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1007\/164_2022_596","volume":"280","author":"Y Zhou","year":"2023","unstructured":"Zhou Y, Lauschke VM. Challenges related to the use of next-generation sequencing for the optimization of drug therapy. Handb Exp Pharmacol. 2023;280:237\u201360.","journal-title":"Handb Exp Pharmacol"},{"key":"430_CR50","doi-asserted-by":"publisher","first-page":"2191","DOI":"10.1016\/j.clinph.2018.06.024","volume":"129","author":"MC Tjepkema-Cloostermans","year":"2018","unstructured":"Tjepkema-Cloostermans MC, de Carvalho RC, van Putten MJ. Deep learning for detection of focal epileptiform discharges from scalp EEG recordings. Clin Neurophysiol. 2018;129:2191\u20136.","journal-title":"Clin Neurophysiol"},{"key":"430_CR51","doi-asserted-by":"publisher","first-page":"e1571","DOI":"10.1212\/WNL.0000000000012698","volume":"97","author":"RS Gill","year":"2021","unstructured":"Gill RS, Lee H-M, Caldairou B, Hong S-J, Barba C, Deleo F, et al. Multicenter validation of a deep learning detection algorithm for focal cortical dysplasia. Neurology. 2021;97:e1571\u2013e82.","journal-title":"Neurology"},{"key":"430_CR52","doi-asserted-by":"crossref","unstructured":"Alfirevic A, Pirmohamed M. Pharmacogenetics and pharmacogenomics. In Medical and Health Genomics. Academic Press. 2016; 121\u2013137.","DOI":"10.1016\/B978-0-12-420196-5.00010-1"},{"key":"430_CR53","doi-asserted-by":"publisher","first-page":"3816","DOI":"10.1093\/brain\/awac210","volume":"145","author":"A Brunklaus","year":"2022","unstructured":"Brunklaus A, Br\u00fcnger T, Feng T, Fons C, Lehikoinen A, Panagiotakaki E, et al. The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. Brain. 2022;145:3816\u201331.","journal-title":"Brain"},{"key":"430_CR54","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1002\/cpt.1654","volume":"107","author":"A Gaedigk","year":"2019","unstructured":"Gaedigk A, Whirl-Carrillo M, Pratt VM, Miller NA, Klein TE. PharmVar and the landscape of pharmacogenetic resources. Clin Pharmacol Ther. 2019;107:43.","journal-title":"Clin Pharmacol Ther"},{"key":"430_CR55","doi-asserted-by":"publisher","first-page":"536","DOI":"10.1093\/bioinformatics\/btab658","volume":"38","author":"BM Schilder","year":"2022","unstructured":"Schilder BM, Humphrey J, Raj T. echolocatoR: an automated end-to-end statistical and functional genomic fine-mapping pipeline. Bioinformatics. 2022;38:536\u20139.","journal-title":"Bioinformatics"},{"key":"430_CR56","doi-asserted-by":"publisher","first-page":"S90","DOI":"10.1111\/epi.16539","volume":"62","author":"SM Sisodiya","year":"2021","unstructured":"Sisodiya SM. Precision medicine and therapies of the future. Epilepsia. 2021;62:S90\u2013S105.","journal-title":"Epilepsia"},{"key":"430_CR57","doi-asserted-by":"publisher","first-page":"2890","DOI":"10.3390\/jcm9092890","volume":"9","author":"SD Klomp","year":"2020","unstructured":"Klomp SD, Manson ML, Guchelaar H-J, Swen JJ. Phenoconversion of cytochrome P450 metabolism: a systematic review. J Clin Med. 2020;9:2890.","journal-title":"J Clin Med"},{"key":"430_CR58","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1111\/bcp.12441","volume":"79","author":"RR Shah","year":"2015","unstructured":"Shah RR, Smith RL. Addressing phenoconversion: the Achilles\u2019 heel of personalized medicine. Br J Clin Pharmacol. 2015;79:222\u201340.","journal-title":"Br J Clin Pharmacol"},{"key":"430_CR59","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1111\/cts.12692","volume":"13","author":"KE Caudle","year":"2020","unstructured":"Caudle KE, Sangkuhl K, Whirl\u2010Carrillo M, Swen JJ, Haidar CE, Klein TE, et al. Standardizing CYP 2D6 genotype to phenotype translation: consensus recommendations from the Clinical Pharmacogenetics Implementation Consortium and Dutch Pharmacogenetics Working Group. Clin Transl Sci. 2020;13:116\u201324.","journal-title":"Clin Transl Sci"},{"key":"430_CR60","doi-asserted-by":"publisher","first-page":"458","DOI":"10.1089\/cap.2024.0069","volume":"34","author":"JR Bishop","year":"2024","unstructured":"Bishop JR, Zhou C, Gaedigk A, Krone B, Kittles R, Cook EH, et al. Dopamine transporter and CYP2D6 gene relationships with Attention-Deficit\/Hyperactivity disorder treatment response in the Methylphenidate and Atomoxetine Crossover Study. J Child Adolesc Psychopharmacol. 2024;34:458\u201369.","journal-title":"J Child Adolesc Psychopharmacol"},{"key":"430_CR61","doi-asserted-by":"publisher","first-page":"758","DOI":"10.1016\/S0140-6736(18)32042-7","volume":"393","author":"S Petrovski","year":"2019","unstructured":"Petrovski S, Aggarwal V, Giordano JL, Stosic M, Wou K, Bier L, et al. Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study. Lancet. 2019;393:758\u201367.","journal-title":"Lancet"},{"key":"430_CR62","doi-asserted-by":"publisher","first-page":"240","DOI":"10.37349\/ent.2024.00080","volume":"4","author":"A Shahid","year":"2024","unstructured":"Shahid A, Hameed K, Zainab A, Zafar A, Abbas S. Advances in pharmacogenomics: optimizing antiepileptic drug therapy for drug-resistant epilepsy. Explor Neuroprot Ther. 2024;4:240\u201350.","journal-title":"Explor Neuroprot Ther"},{"key":"430_CR63","doi-asserted-by":"publisher","first-page":"2539","DOI":"10.1111\/bcp.15139","volume":"88","author":"C Marini","year":"2022","unstructured":"Marini C, Giardino M. Novel treatments in epilepsy guided by genetic diagnosis. Br J Clin Pharmacol. 2022;88:2539\u201351.","journal-title":"Br J Clin Pharmacol"},{"key":"430_CR64","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1007\/s11940-024-00806-6","volume":"26","author":"A Beil","year":"2024","unstructured":"Beil A, Wagner M, Nulle J, Friedli M, Dang LT, Pan T. Genetic testing for epilepsy: a user guide. Curr Treat Options Neurol. 2024;26:441\u20139.","journal-title":"Curr Treat Options Neurol"},{"key":"430_CR65","doi-asserted-by":"publisher","first-page":"16280","DOI":"10.3390\/ijms242216280","volume":"24","author":"K Borowicz-Reutt","year":"2023","unstructured":"Borowicz-Reutt K, Czernia J, Krawczyk M. Genetic background of epilepsy and antiepileptic treatments. Int J Mol Sci. 2023;24:16280.","journal-title":"Int J Mol Sci"},{"key":"430_CR66","doi-asserted-by":"publisher","DOI":"10.3389\/fphar.2022.867490","volume":"13","author":"K Tiwattanon","year":"2022","unstructured":"Tiwattanon K, John S, Koomdee N, Jinda P, Rachanakul J, Jantararoungtong T, et al. Implementation of HLA-B*15:02 genotyping as standard-of-care for reducing carbamazepine\/oxcarbazepine induced cutaneous adverse drug reactions in thailand. Front Pharmacol. 2022;13:867490.","journal-title":"Front Pharmacol"},{"key":"430_CR67","unstructured":"Gospe SM Jr. Pyridoxine-dependent epilepsy\u2013ALDH7A1. In: GeneReviews\u00ae. 2021."},{"key":"430_CR68","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1124\/jpet.123.001816","volume":"388","author":"DS Reddy","year":"2024","unstructured":"Reddy DS. Neurosteroids as novel anticonvulsants for refractory status epilepticus and medical countermeasures for nerve agents: a 15-year journey to bring ganaxolone from bench to clinic. J Pharmacol Exp Ther. 2024;388:273\u2013300.","journal-title":"J Pharmacol Exp Ther"}],"container-title":["The Pharmacogenomics Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41397-026-00430-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41397-026-00430-4","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41397-026-00430-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T02:02:50Z","timestamp":1793152970000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41397-026-00430-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10]]},"references-count":68,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,10]]}},"alternative-id":["430"],"URL":"https:\/\/doi.org\/10.1038\/s41397-026-00430-4","relation":{},"ISSN":["1470-269X","1473-1150"],"issn-type":[{"value":"1470-269X","type":"print"},{"value":"1473-1150","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10]]},"assertion":[{"value":"3 July 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 August 2026","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 September 2026","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 October 2026","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Ethics"}}],"article-number":"38"}}