Molecular genetics of human epilepsies

The term epilepsy encompasses a heterogeneous group of disorders, with a lifetime cumulative incidence of 3%. Genetic factors are thought to contribute to the aetiology in up to 60% of cases. Various molecular and cellular mechanisms give rise to epilepsy, and epilepsy genes fall into several distinct categories. They include genes in which mutations cause abnormal ion-channel function, disordered brain development, progressive neurodegeneration and disturbances of cerebral energy metabolism. In this review, we have focused on current understanding of the molecular genetic bases of human inherited epilepsies. Particular reference has been given to specific idiopathic epilepsies, neuronal migration disorders (cortical dysgeneses) and the progressive myoclonic epilepsies, and how information about this group of disorders might be used to develop new treatment strategies.