Neurol. praxi. 2012;13(4):216-218
Genetic testing in idiopathic epileptic syndromes and epileptic encephalopathies - part I
- Centrum pro epilepsie Motol, Neurologická klinika 2. LF UK a FN Motol, Praha
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 identified genetic aetiology,
possibilities of genetic testing and current opinion on the clinical utility of genetic testing in specific syndromes is provided.
Keywords: idiopathic epileptic syndromes, epileptic encephalopathies, genetic testing
Published: July 31, 2012 Show citation
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