Neurológia pre prax 2/2012

Genetic aspects of „idiopathic“ epilepsies

Nowadays we should suppose that epileptology come in the period of DNA and the genetics has become one of main trend of research in epileptology over the world. Epilepsies in which genetic background is predicted are called “idiopathic”. In recent years genetic discoveries have shown the central role of ion channels in the pathophysiology of idiopathic epilepsies. Ion channels are divided to voltage-gated and ligand-gated ion channels. For voltage-gated ion channels, mutation of Na+, K+ and Cl- channels are associated with forms of generalized epilepsy and infantile seizures syndromes. Mutations in ligand-gated ion channels, such as nicotinic acetylcholine receptors and GABA receptors, are associated with specific syndromes of frontal and generalized epilepsies, respectively. Mutations in few genes that do not encode ion channels have been identified in the idiopathic human epilepsies. In children and young adults are idiopathic epilepsies often, that´ s way identification of the genetic-biological ethiopatogenesy can perspectively lead to individualization and selection of farmacotherapy in clinical practice. The article suggests the summary of up-todate discoveries in the field of genetic epilepsy research.

Keywords: epilepsy, epileptic syndrome, genetic, ion channels, channelopathies.