Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies
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...
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| Veröffentlicht in: | Pharmacological reviews 2018-01, Vol.70 (1), p.142-173 |
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| creator | Oyrer, Julia Maljevic, Snezana Scheffer, Ingrid E Berkovic, Samuel F Petrou, Steven Reid, Christopher A |
| description | 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_str_mv | 10.1124/pr.117.014456 |
| format | Article |
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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. 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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.</description><subject>Animals</subject><subject>Anticonvulsants - pharmacology</subject><subject>Anticonvulsants - therapeutic use</subject><subject>Epilepsy - drug therapy</subject><subject>Epilepsy - genetics</subject><subject>Epilepsy - metabolism</subject><subject>Humans</subject><subject>Ion Channels - antagonists & inhibitors</subject><subject>Ion Channels - genetics</subject><subject>Ion Channels - metabolism</subject><subject>Molecular Targeted Therapy</subject><subject>Review</subject><issn>0031-6997</issn><issn>1521-0081</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpVkE1Lw0AURQdRbK0u3cos3aTO92RcCFLbWqi4qQtXYZK8tiPJJM6kQv-9Qavo6sJ7h3PhInRJyZhSJm7a0KceEyqEVEdoSCWjCSEpPUZDQjhNlDF6gM5ifCM9JFN5igbMMMUZMUP0umg8nmyt91BF7Dyeg4fOFXjaugrauL_Fs9DUX-eIrS_xExQ97mIdcdfgBxfBRkhWNmyggxKvthBs6yCeo5O1rSJcHHKEXmbT1eQxWT7PF5P7ZdJSo7rElikYK8tUiJwxaplgRlNeyiKVWimu9NpQXQhuhAKd54VVaa6IWNN0nRtl-AjdfXvbXV5DWYDvgq2yNrjahn3WWJf9_3i3zTbNRyY1TzXVveD6IAjN-w5il9UuFlBV1kOzixk12kii-mF79Opv12_Jz578E3-Td2U</recordid><startdate>201801</startdate><enddate>201801</enddate><creator>Oyrer, Julia</creator><creator>Maljevic, Snezana</creator><creator>Scheffer, Ingrid E</creator><creator>Berkovic, Samuel F</creator><creator>Petrou, Steven</creator><creator>Reid, Christopher A</creator><general>The American Society for Pharmacology and Experimental Therapeutics</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>201801</creationdate><title>Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies</title><author>Oyrer, Julia ; Maljevic, Snezana ; Scheffer, Ingrid E ; Berkovic, Samuel F ; Petrou, Steven ; Reid, Christopher A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p196t-ad8e9a5d844b221a2429713d5c85766367f917c43946e7bbca68b604f18fb9693</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>Animals</topic><topic>Anticonvulsants - pharmacology</topic><topic>Anticonvulsants - therapeutic use</topic><topic>Epilepsy - drug therapy</topic><topic>Epilepsy - genetics</topic><topic>Epilepsy - metabolism</topic><topic>Humans</topic><topic>Ion Channels - antagonists & inhibitors</topic><topic>Ion Channels - genetics</topic><topic>Ion Channels - metabolism</topic><topic>Molecular Targeted Therapy</topic><topic>Review</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Oyrer, Julia</creatorcontrib><creatorcontrib>Maljevic, Snezana</creatorcontrib><creatorcontrib>Scheffer, Ingrid E</creatorcontrib><creatorcontrib>Berkovic, Samuel F</creatorcontrib><creatorcontrib>Petrou, Steven</creatorcontrib><creatorcontrib>Reid, Christopher A</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Pharmacological reviews</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Oyrer, Julia</au><au>Maljevic, Snezana</au><au>Scheffer, Ingrid E</au><au>Berkovic, Samuel F</au><au>Petrou, Steven</au><au>Reid, Christopher A</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies</atitle><jtitle>Pharmacological reviews</jtitle><addtitle>Pharmacol Rev</addtitle><date>2018-01</date><risdate>2018</risdate><volume>70</volume><issue>1</issue><spage>142</spage><epage>173</epage><pages>142-173</pages><issn>0031-6997</issn><eissn>1521-0081</eissn><abstract>Epilepsy is a common and serious neurologic disease with a strong genetic component. 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| fulltext | fulltext |
| identifier | ISSN: 0031-6997 |
| ispartof | Pharmacological reviews, 2018-01, Vol.70 (1), p.142-173 |
| issn | 0031-6997 1521-0081 |
| language | eng |
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| source | MEDLINE; Alma/SFX Local Collection; EZB Electronic Journals Library |
| subjects | Animals Anticonvulsants - pharmacology Anticonvulsants - therapeutic use Epilepsy - drug therapy Epilepsy - genetics Epilepsy - metabolism Humans Ion Channels - antagonists & inhibitors Ion Channels - genetics Ion Channels - metabolism Molecular Targeted Therapy Review |
| title | Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies |
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