Linked Life Data

19027780

Source:http://linkedlifedata.com/resource/pubmed/id/19027780

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2-3
pubmed:dateCreated
2009-3-16
pubmed:abstractText
Voltage-gated Na+ channels mediate the rapid upstroke of the action potential in excitable tissues. Na(v)1.5, encoded by the SCN5A gene, is the predominant isoform in the heart. Mutations in SCN5A are associated with distinct cardiac excitation disorders often resulting in life-threatening arrhythmias. This review outlines the currently known SCN5A mutations linked to three distinct cardiac rhythm disorders: long QT syndrome subtype 3 (LQT3), Brugada syndrome (BS), and cardiac conduction disease (CCD). Electrophysiological properties of the mutant channels are summarized and discussed in terms of Na+ channel structure-function relationships and regarding molecular mechanisms underlying the respective cardiac dysfunction. Possible reasons for less convincing genotype-phenotype correlations are suggested.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0079-6107
pubmed:author
pubmed:issnType
Print
pubmed:volume
98
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
120-36
pubmed:dateRevised
2011-7-22
pubmed:meshHeading
pubmed:articleTitle
SCN5A channelopathies--an update on mutations and mechanisms.
pubmed:affiliation
Institute of Physiology II, Friedrich Schiller University Jena, Kollegiengasse 9, 07743 Jena, Germany. thomas.zimmer@mti.uni-jena.de <thomas.zimmer@mti.uni-jena.de>
pubmed:publicationType
Journal Article, Review