Massoud Houshmand - NIGEB, Department of Human Genetics

There are large variation between the cases in efficacy, adverse reactions and optimal dose of anti-epileptic medications. The genetic variations are seen in the genes that are responsible in pharmacokinetics and pharmacodynamics of Anti-Epileptic drugs (AED). The best defined indication for testing relates to HLA-B*15:02 genotyping to identify those individuals of Iranian cases who are at high risk for developing serious adverse cutaneous reactions to carbamazepine. . 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. Here we review the current state of epilepsy pharmacogenetics focusing on phenotyping questions and discuss what characteristics we need to study to get answers and we discuss on rate and prevalence of HLA-B*15:02 variation in our cases.

Pharmacogenetic, Epilepsy, Carbamazepine