[Genetic aspects of epilepsy]

Abstract

The progress in genetic research in epilepsy mainly concerns two important aspects of the disease--identification of genetic etiology and drug therapy. Genetically, epilepsies can be divided according to the mode of inheritance. Epilepsies with simple or Mendelian inheritance, maintain Mendel's laws of inheritance, which determine that each gene is responsible for a certain trait. Several genetic and environmental factors are involved in epilepsies with complex inheritance. In the past few years, several idiopathic generalized epilepsies were ascribed to voltage and ligand-dependent channels, such as potassium, sodium, and chloride channels and the GABA receptor. Monogenic inheritance was also reported in several localization-related epilepsies. Nearly half of the patients with epilepsy continue to have refractory epilepsy and side effects of drug therapy. Genetic factors related to the pharmacokinetics and pharmacodynamics of antiepileptic drugs are deemed important. The pharmacogenetic approach to drug therapy will enable early identification of potential side effects and lack of efficacy before treatment initiation, based on the patient's genotype. The epilepsy-related genetic information accumulated in the past decade entails new diagnostic and treatment opportunities for patients with epilepsy. However, its moral and social implications on the patients and their families should be carefully examined.