| Inherited cardiac diseases caused by mutations in the Nav1.5 sodium channel. | |
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MedLine Citation:
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PMID: 19845816 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A prerequisite for a normal cardiac function is a proper generation and propagation of electrical impulses. Contraction of the heart is obtained through a delicate matched transmission of the electrical impulses. A pivotal element of the impulse propagation is the depolarizing sodium current, responsible for the initial depolarization of the cardiomyocytes. Recent research has shown that mutations in the SCN5A gene, encoding the cardiac sodium channel Nav1.5, are associated with both rare forms of ventricular arrhythmia, as well as the most frequent form of arrhythmia, atrial fibrillation (AF). In this comprehensive review, we describe the functional role of Nav1.5 and its associated proteins in propagation and depolarization both in a normal- and in a pathophysiological setting. Furthermore, several of the arrhythmogenic diseases, such as long-QT syndrome, Brugada syndrome, and AF, reported to be associated with mutations in SCN5A, are thoroughly described. |
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Authors:
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Jacob Tfelt-Hansen; Bo Gregers Winkel; Morten Grunnet; Thomas Jespersen |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review Date: 2009-10-20 |
Journal Detail:
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Title: Journal of cardiovascular electrophysiology Volume: 21 ISSN: 1540-8167 ISO Abbreviation: J. Cardiovasc. Electrophysiol. Publication Date: 2010 Jan |
Date Detail:
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Created Date: 2010-05-21 Completed Date: 2010-09-24 Revised Date: 2011-07-22 |
Medline Journal Info:
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Nlm Unique ID: 9010756 Medline TA: J Cardiovasc Electrophysiol Country: United States |
Other Details:
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Languages: eng Pagination: 107-15 Citation Subset: IM |
Affiliation:
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The Danish National Research Foundation Centre for Cardiac Arrhythmia (DARC), Copenhagen, Denmark. tfelt@dadlnet.dk |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Genetic Predisposition to Disease
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epidemiology*,
genetics* Heart Diseases / epidemiology*, genetics* Humans Muscle Proteins / genetics* Mutation Polymorphism, Single Nucleotide / genetics* Sodium Channels / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Muscle Proteins; 0/Sodium Channels; 0/sodium channel protein type 5 subunit alpha |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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