Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/43421
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Type: Journal article
Title: Channelopathies in idiopathic epilepsy
Author: Heron, S.
Scheffer, I.
Berkovic, S.
Dibbens, L.
Mulley, J.
Citation: Neurotherapeutics, 2007; 4(2):295-304
Publisher: American Society for Experimental Neurotherapeutics
Issue Date: 2007
ISSN: 1933-7213
1878-7479
Statement of
Responsibility: 
Sarah E. Heron, Ingrid E. Scheffer, Samuel F. Berkovic, Leanne M. Dibbens and John C. Mulley
Abstract: Approximately 70% of all patients with epilepsy lack an obvious extraneous cause and are presumed to have a predominantly genetic basis. Both familial and de novo mutations in neuronal voltage-gated and ligand-gated ion channel subunit genes have been identified in autosomal dominant epilepsies. However, patients with dominant familial mutations are rare and the majority of idiopathic epilepsy is likely to be the result of polygenic susceptibility alleles (complex epilepsy). Data on the identity of the genes involved in complex epilepsy is currently sparse but again points to neuronal ion channels. The number of genes and gene families associated with epilepsy is rapidly increasing and this increase is likely to escalate over the coming years with advances in mutation detection technologies. The genetic heterogeneity underlying idiopathic epilepsy presents challenges for the rational selection of therapies targeting particular ion channels. Too little is currently known about the genetic architecture of the epilepsies, and genetic testing for the known epilepsy genes remains costly. Pharmacogenetic studies have yet to explain why 30% of patients do not respond to the usual antiepileptic drugs. Despite this, the recognition that the idiopathic epilepsies are a group of channelopathies has, to a limited extent, explained the therapeutic action of the common antiepileptic drugs and has assisted clinical diagnosis of some epilepsy syndromes.
Keywords: Animals; Humans; Epilepsy; Chloride Channels; Sodium Channels; Receptors, GABA; Receptors, Cholinergic; Family Health; Channelopathies
Description: Copyright © 2007 The American Society for Experimental NeuroTherapeutics, Inc. Published by Elsevier B.V.
RMID: 0020072831
DOI: 10.1016/j.nurt.2007.01.009
Description (link): http://www.elsevier.com/wps/find/journaldescription.cws_home/711525/description#description
Appears in Collections:Molecular and Biomedical Science publications

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