Contributions to epilepsy genetics

INTRODUCTION AND DEVELOPMENT: In recent years the progress made in genetics has revolutionised our knowledge of the physiopathological mechanisms governing epilepsy. Just 20 years ago, none of the genes involved in epilepsy were known. Since then 11 genes have been identified and this has enabled us to better understand the mechanisms that generate the seizures. This is not only of interest to academics but can also have a practical application by helping when it comes to making a rational choice of a drug in a particular epileptic syndrome, or by allowing new drugs to be developed as new therapeutic targets are identified. CONCLUSIONS: Genetics can help us to understand the mechanisms that cause resistance to drugs and to determine the risk of a patient's suffering from idiosyncratic side effects or not. It is therefore to be expected that over the next few years it will become a fundamental body of doctrine for the daily management of epileptic patients.