Genetics of epilepsy.
Understanding the molecular biology of epilepsy is a challenge for modern science. Epilepsy results from alternations in fundamental mechanisms of brain and membrane function. Although an understanding of the mode of inheritance and the etiology of genetic epilepsy syndromes forms the basis for genetic counseling, the development of specific therapies will come from knowing the basic mechanisms of epilepsy. Defining the genes causing epilepsy requires an unambiguous definition of seizure phenotype, along with the stability of that trait, an unremitting clinical course, and an abundance of clinical material. This article reviews the task of defining the genetics of epilepsy and discusses genetic methodology, idiopathic generalized and localization-related partial epilepsies, neuronal migration disorders, progressive myoclonus epilepsies, molecular biology of epileptogenesis, and future research.
Willmore
L James
LJ
Department of Neurology, Saint Louis University School of Medicine, St Louis, MO 63104, USA. willmore@slu.edu
Ueda
Yuto
Y
D002648:Child; D004827:Epilepsy / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D013577:Syndrome