title: Biomarkers for antiepileptic drug response.
abstract: The identification and validation of genetic factors ('biomarkers') that reliably predict the efficacy and toxicity of specific pharmacological agents for individual patients would significantly improve the current treatment of patients with epilepsy. A pharmacogenetic biomarker classification has been proposed that identifies three biomarker types involved in drug response: 'known valid biomarkers', 'probable valid biomarkers' and 'exploratory or research biomarkers'. The only known valid antiepileptic drug biomarker is HLA-B*1502 (Stevens-Johnson syndrome in patients of specific Asian backgrounds taking carbamazepine). Probable valid antiepileptic drug biomarkers include polymorphisms in one drug transporter gene, two drug metabolizing genes, three sodium channel genes and one HLA allele. Current methodological challenges to identifying new antiepileptic medication biomarkers can only be overcome with large-scale collaborative research efforts.
authors: Division of Child Neurology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 2015, Cincinnati, OH 45229, USA. tracy.glauser@cchmc.org
authors: Tracy A
authors: TA
authors: Glauser
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1 / Q000235:genetics; D000483:Alleles; D000927:Anticonvulsants / Q000627:therapeutic use*; D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics / Q000502:physiology; D015415:Biomarkers / Q000378:metabolism*; D002220:Carbamazepine / Q000627:therapeutic use; D065731:Cytochrome P-450 CYP2C19; D065729:Cytochrome P-450 CYP2C9; D004827:Epilepsy / Q000188:drug therapy*; D015234:HLA-A Antigens / Q000235:genetics; D059910:HLA-B15 Antigen / Q000235:genetics; D006801:Humans; D011110:Polymorphism, Genetic
chemical_list: C513055:ABCB1 protein, human; D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1; D000927:Anticonvulsants; D015415:Biomarkers; D015234:HLA-A Antigens; C506273:HLA-A*31:01 antigen; C483536:HLA-B*15:02 antigen; D059910:HLA-B15 Antigen; D002220:Carbamazepine; C450260:CYP2C9 protein, human; D065729:Cytochrome P-450 CYP2C9; D001189:Aryl Hydrocarbon Hydroxylases; C045793:CYP2C19 protein, human; D065731:Cytochrome P-450 CYP2C19