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rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0001128,
umls-concept:C0018787,
umls-concept:C0026882,
umls-concept:C0039082,
umls-concept:C0205314,
umls-concept:C0439799,
umls-concept:C0597484,
umls-concept:C0679622,
umls-concept:C1314792,
umls-concept:C1514562,
umls-concept:C1744681,
umls-concept:C1880389,
umls-concept:C1883204,
umls-concept:C1883221
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|
pubmed:issue |
24
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|
pubmed:dateCreated |
1999-7-8
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|
pubmed:abstractText |
Congenital long-QT syndrome (LQTS) is an inherited condition of abnormal cardiac excitability characterized clinically by an increased risk of ventricular tachyarrhythmias. One form, LQT3, is caused by mutations in the cardiac voltage-dependent sodium channel gene, SCN5A. Only 5 SCN5A mutations have been associated with LQTS, and more work is needed to improve correlations between SCN5A genotypes and associated clinical syndromes.
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pubmed:grant |
|
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pubmed:language |
eng
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|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
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|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jun
|
|
pubmed:issn |
1524-4539
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|
pubmed:author |
|
|
pubmed:issnType |
Electronic
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pubmed:day |
22
|
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pubmed:volume |
99
|
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pubmed:owner |
NLM
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|
pubmed:authorsComplete |
Y
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pubmed:pagination |
3165-71
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pubmed:dateRevised |
2011-7-22
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pubmed:meshHeading |
pubmed-meshheading:10377081-Adolescent,
pubmed-meshheading:10377081-Animals,
pubmed-meshheading:10377081-Base Sequence,
pubmed-meshheading:10377081-Cloning, Molecular,
pubmed-meshheading:10377081-Conserved Sequence,
pubmed-meshheading:10377081-DNA Primers,
pubmed-meshheading:10377081-Death, Sudden,
pubmed-meshheading:10377081-Electrocardiography,
pubmed-meshheading:10377081-Electrophysiology,
pubmed-meshheading:10377081-Female,
pubmed-meshheading:10377081-Humans,
pubmed-meshheading:10377081-Long QT Syndrome,
pubmed-meshheading:10377081-Male,
pubmed-meshheading:10377081-Membrane Potentials,
pubmed-meshheading:10377081-Molecular Sequence Data,
pubmed-meshheading:10377081-Mutagenesis, Site-Directed,
pubmed-meshheading:10377081-Myocardium,
pubmed-meshheading:10377081-Oocytes,
pubmed-meshheading:10377081-Pedigree,
pubmed-meshheading:10377081-Point Mutation,
pubmed-meshheading:10377081-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:10377081-Protein Structure, Tertiary,
pubmed-meshheading:10377081-Sequence Homology, Amino Acid,
pubmed-meshheading:10377081-Sodium Channels,
pubmed-meshheading:10377081-Structure-Activity Relationship,
pubmed-meshheading:10377081-Tetrodotoxin,
pubmed-meshheading:10377081-Xenopus
|
|
pubmed:year |
1999
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|
pubmed:articleTitle |
Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.
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|
pubmed:affiliation |
Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA.
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|
pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
|
