| Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations. | |
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MedLine Citation:
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PMID: 18436145 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Cardiac sodium channel dysfunction caused by mutations in the SCN5A gene is associated with a number of relatively uncommon arrhythmia syndromes, including long-QT syndrome type 3 (LQT3), Brugada syndrome, conduction disease, sinus node dysfunction, and atrial standstill, which potentially lead to fatal arrhythmias in relatively young individuals. Although these various arrhythmia syndromes were originally considered separate entities, recent evidence indicates more overlap in clinical presentation and biophysical defects of associated mutant channels than previously appreciated. Various SCN5A mutations are now known to present with mixed phenotypes, a presentation that has become known as "overlap syndrome of cardiac sodium channelopathy." In many cases, multiple biophysical defects of single SCN5A mutations are suspected to underlie the overlapping clinical manifestations. Here, we provide an overview of current knowledge on SCN5A mutations associated with sodium channel overlap syndromes and discuss a possible role for modifiers in determining disease expressivity in the individual patient. |
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Authors:
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Carol Ann Remme; Arthur A M Wilde; Connie R Bezzina |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Trends in cardiovascular medicine Volume: 18 ISSN: 1050-1738 ISO Abbreviation: Trends Cardiovasc. Med. Publication Date: 2008 Apr |
Date Detail:
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Created Date: 2008-04-25 Completed Date: 2008-07-10 Revised Date: 2008-11-21 |
Medline Journal Info:
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Nlm Unique ID: 9108337 Medline TA: Trends Cardiovasc Med Country: United States |
Other Details:
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Languages: eng Pagination: 78-87 Citation Subset: IM |
Affiliation:
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Department of Experimental Cardiology, Heart Failure Research Center, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. c.a.remme@amc.uva.nl |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Animals Biophysical Phenomena Biophysics Brugada Syndrome / genetics*, physiopathology DNA Mutational Analysis Genetic Predisposition to Disease Humans Long QT Syndrome / genetics*, physiopathology Mutation, Missense / genetics* Phenotype Sick Sinus Syndrome / genetics*, physiopathology Sodium Channels / genetics*, physiology |
| Chemical | |
Reg. No./Substance:
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0/Sodium Channels |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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