Genetics of epilepsy

摘要

Genetic factors are suspected to have greater influence in idiopathic than symptomatic epilepsies. There are over 200 individually rare, mendelian disorders in which seizures form part of their phenotype. These diseases, however, are few and account for only 1% of all epilepsies. Hereditary disorders with epilepsy can hence be classified according to the mechanisms of inheritance as: Mendelian disorders in which epilepsy forms a part of the phenotype, idiopathic epilepsies with mendelian inheritance, epilepsies with complex inheritance and idiopathic epilepsies associated with cytogenetic abnormalities. The role of genetics is not only restricted to epilepsy type but also influences various aspects of pharmacotherapy. The knowledge gained from pharmacogenetics hopes to predict therapeutic drug response and adverse drug reactions (ADRs). It now appears that genetic mechanisms contribute to refractoriness of pharmacotherapies via pharmacodynamic and kinetic mechanisms. Research into genetic aspects of pharmacodynamic and kinetic responses of an individual and prediction of ADRs is going to be an important area of forthcoming research. Knowledge of this aspect of epilepsy is expected to provide not only innovative therapies but also help in the prevention of epilepsies.