Neurológia pre prax 4/2012

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

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. In genetic counselling physicians should be familiar not only with the mode of inheritance of disorders, but must be also aware of frequent genetic and phenotype heterogenicity and clinical utility of the tests. The overview of idiopathic epileptic syndromes and epileptic encephalopathies with identied genetic aetiology, possibilities of genetic testing and current opinion on the clinical utility of genetic testing in specic syndromes is provided.

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