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Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.

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.

SUBMITTER: Oyrer J

PROVIDER: S-EPMC5738717 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature

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Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.

Oyrer Julia J Maljevic Snezana S Scheffer Ingrid E IE Berkovic Samuel F SF Petrou Steven S Reid Christopher A CA

Pharmacological reviews 20180101 1

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 mech ...[more]

PMID: 29263209

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