The pharmacogenomics of epilepsy.
Genetic factors contribute to the high interindividual variability in response to antiepileptic drugs. However, most genetic markers identified to date have limited sensitivity and specificity, and the value of genetic testing in guiding antiepileptic drug (AED) therapy is limited. The best defined indication for testing relates to HLA-B*15:02 genotyping to identify those individuals of South Asian ethnicity who are at high risk for developing serious adverse cutaneous reactions to carbamazepine. The indication for HLA-A*31:01 testing to identify individuals at risk for skin reactions from carbamazepine, or for CYP2C9 genotyping to identify individuals at risk for serious skin reactions from phenytoin is less compelling. The use of genetic testing to guide epilepsy treatment is likely to increase in the future, as better understanding of the function of epilepsy genes will permit the application of precision medicine targeting the biological mechanisms responsible for epilepsy in the specific individual.
a 1 C. Mondino National Neurological Institute, Pavia, Italy.
Valentina
V
Franco
a 1 C. Mondino National Neurological Institute, Pavia, Italy.|b 2 Department of Internal Medicine and Therapeutics, Division of Clinical and Experimental Pharmacology, University of Pavia, Pavia, Italy.
Emilio
E
Perucca
D000927:Anticonvulsants / Q000009:adverse effects / Q000627:therapeutic use*; D004827:Epilepsy / Q000188:drug therapy* / Q000235:genetics*; D006801:Humans; D010597:Pharmacogenetics; D016032:Randomized Controlled Trials as Topic
D000927:Anticonvulsants
adverse drug reactions; antiepileptic drugs; efficacy; epilepsy; genetics; pharmacogenomics; pharmacoresistance