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Title: Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.
Austin Authors: Oyrer, Julia;Maljevic, Snezana;Scheffer, Ingrid E ;Berkovic, Samuel F ;Petrou, Steven;Reid, Christopher A
Affiliation: The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Melbourne, Australia
Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia
Issue Date: Jan-2018
Publication information: Pharmacological reviews 2018; 70(1): 142-173
Abstract: Epilepsy is a common and serious neurologic disease with a strong genetic component. Genetic studies have identified an increasing collection of disease-causing genes. The impact of these genetic discoveries is wide reaching-from precise diagnosis and classification of syndromes to the discovery and validation of new drug targets and the development of disease-targeted therapeutic strategies. About 25% of genes identified in epilepsy encode ion channels. Much of our understanding of disease mechanisms comes from work focused on this class of protein. In this study, we review the genetic, molecular, and physiologic evidence supporting the pathogenic role of a number of different voltage- and ligand-activated ion channels in genetic epilepsy. We also review proposed disease mechanisms for each ion channel and highlight targeted therapeutic strategies.
DOI: 10.1124/pr.117.014456
ORCID: 0000-0002-2311-2174
Journal: Pharmacological reviews
PubMed URL: 29263209
Type: Journal Article
Appears in Collections:Journal articles

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