The genetic and molecular basis of epilepsy.
In the past decade, studies of large families in which epilepsy has been inherited in an autosomal dominant fashion have revealed several mutated genes, most of which encode ion channel subunits. Despite these exciting findings, only a few families with similar phenotypes have mutations in these known genes. More frustrating has been the genetic research into idiopathic epilepsies with complex inheritance. Although these forms are more common than those with Mendelian inheritance, their unknown mode of inheritance, phenotypic heterogeneity and the uncertainty of the genetic overlap among syndrome subtypes have hampered gene mapping. New techniques of molecular analysis could help the dissection of genes for epilepsies with complex inheritance. Hopefully, in the near future, successful genetic studies will make possible the discovery of new and more-targeted anti-epileptic drugs.
Guerrini
Renzo
R
Epilepsy, Neurophysiology and Neurogenetics Unit, Division of Child Neurology and Psychiatry, University of Pisa and Research Institute, IRCCS Stella Maris Foundation, Pisa 56018, Italy. renzo.guerrini@inpe.unipi.it
Casari
Giorgio
G
Marini
Carla
C
D015220:Calcium Channels / Q000235:genetics; D004827:Epilepsy / Q000145:classification / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans
D015220:Calcium Channels