Neurológia pre prax 5/2012

Genetic testing in idiopathic epileptic syndromes and epileptic encephalopathies – part II

Molecular genetic diagnostic methods have recently very quickly advanced, their yield has simultaneously increased and the cost decreased. Both physicians and common population have become more aware of possible genetic reasons for epilepsy and demands for genetic testing of patients with epilepsy have increased too. But despite the progress in identification of genes contributing to different epileptic syndromes the utility of genetic tests in clinical epileptology is often controversial. This second part of our article provides recent genetic information on idiopathic epileptic syndromes and epileptic encephalopathies with identified genetic aetiology, possibilities of genetic testing and current opinion on the clinical utility of genetic testing in respective syndromes.

Keywords: idiopathic epileptic syndromes, epileptic encephalopathies, genetic testing.