Genetics Aspects of Epilepsies and Recent Advances In Genetics of Idiopathic Epilepsies
Journal Title: Journal of Neurological Sciences-Turkish - Year 2006, Vol 23, Issue 2
Abstract
Distinct genetic inheritance patterns such as chromosomal disorders, single gene defects and complex inheritance underly epileptic syndromes. Genetic background of more than 200 diseases, which have other neurological and systemic findings accompanied by epilepsy are caused by single gene disorders. These syndromes constitute only 1% of the epilepsies. However, complex inheritance underlies the majority of idiopathic epilepsies in which seizures are the prominent clinical features. Due to the genetic and phenotypic heterogeneity, besides multiple genes interacting with environmental factors, the genetic etiology of common idiopathic epilepsies is undetermined yet. On the other hand, mutations in voltage or ligand gated ion channel genes are discovered in a few idiopathic epilepsy syndromes including autosomal dominant nocturnal frontal lobe epilepsy, benign familial neonatal convulsions, generalized epilepsy febrile seizures plus syndromes. These advances suggested epilepsies could be interpreted as channelopathies. In this review, the management of clinical and molecular approach to a patient with suspected genetic etiology and recent advances in the genetics of epilepsies are presented.
Authors and Affiliations
Nerses BEBEK, Betul BAYKAN
Keywords
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