[Molecular genetics of epilepsy: present and future implications in clinical practice].

INTRODUCTION: Recent advances in mapping and isolating human epilepsy genes are having an increasing importance in the field of epileptology.

DEVELOPMENT AND CONCLUSIONS: As the molecular bases of the genetic epilepsies are elucidated, more precise diagnoses and therapies are possible. Characterization of the genes responsible for several types of epilepsy will allow the clinician to increase diagnostic precision, offer more exact prognoses, and develop more efficient therapies. At the same time, the search for families with several affected members with some form of epilepsy has lead to the description of previously unnoticed epilepsies and epileptic syndromes. Both the precision in diagnosis and the description of new epilepsy syndromes should be of major importance for the development of the next version of the International Classification of Epilepsies and Epileptic Syndromes. Understanding the pathogenic mechanisms involved in different epilepsies may allow the rational development of 'design' antiepileptic drugs and, in the case of the poor-prognosis progressive myoclonus epilepsies, effective gene therapy treatments. Finally, the possibility of offering prenatal diagnosis and genetic counseling to families exposed to some forms of epilepsy may reduce their incidence in the future.