Neurol. praxi. 2012;13(2):97-100

Genetic aspects of „idiopathic“ epilepsies

MUDr.Štefania Rusnáková¹, RNDr.Lenka Fajkusová, CSc.², Mgr.Eva Jansová², Mgr.Pavla Šultesová², Mgr.Marie Chovančíková, Ph.D.², doc.MUDr.Robert Kuba, Ph.D.^1,3,4, doc.MUDr.Hana Ošlejšková, Ph.D.¹

¹ Centrum pro epilepsie Brno, Klinika dětské neurologie LF MU a FN Brno

² Centrum molekulární biologie a genové terapie, LF MU a FN Brno

³ Centrum pro epilepsie Brno, 1. neurologická klinika LF MU a FN u sv. Anny, Brno

⁴ Výzkumná skupina pro behaviorální a sociální neurovědy CEITEC &ndash,

Středoevropský technologický institut, Masarykova univerzita, Brno

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

Published: April 23, 2012  Show citation