Source:http://linkedlifedata.com/resource/pubmed/id/16616735
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
2006-5-22
|
| pubmed:abstractText |
Brugada syndrome (BS) is an inherited electrical cardiac disorder characterized by right bundle branch block pattern and ST segment elevation in leads V1 to V3 on surface electrocardiogram that can potentially lead to malignant ventricular tachycardia and sudden cardiac death. About 20% of patients have mutations in the only so far identified gene, SCN5A, which encodes the alpha-subunit of the human cardiac voltage-dependent sodium channel (hNa(v)1.5). Fever has been shown to unmask or trigger the BS phenotype, but the associated molecular and the biophysical mechanisms are still poorly understood. We report on the identification and biophysical characterization of a novel heterozygous missense mutation in SCN5A, F1344S, in a 42-year-old male patient showing the BS phenotype leading to ventricular fibrillation during fever.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jun
|
| pubmed:issn |
0008-6363
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
1
|
| pubmed:volume |
70
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
521-9
|
| pubmed:dateRevised |
2011-7-22
|
| pubmed:meshHeading |
pubmed-meshheading:16616735-Action Potentials,
pubmed-meshheading:16616735-Adult,
pubmed-meshheading:16616735-Brugada Syndrome,
pubmed-meshheading:16616735-Cell Line,
pubmed-meshheading:16616735-DNA Mutational Analysis,
pubmed-meshheading:16616735-Electrocardiography,
pubmed-meshheading:16616735-Fever,
pubmed-meshheading:16616735-Heterozygote,
pubmed-meshheading:16616735-Humans,
pubmed-meshheading:16616735-Male,
pubmed-meshheading:16616735-Muscle Cells,
pubmed-meshheading:16616735-Muscle Proteins,
pubmed-meshheading:16616735-Mutagenesis, Site-Directed,
pubmed-meshheading:16616735-Mutation, Missense,
pubmed-meshheading:16616735-Patch-Clamp Techniques,
pubmed-meshheading:16616735-Polymerase Chain Reaction,
pubmed-meshheading:16616735-Sodium Channels,
pubmed-meshheading:16616735-Transfection,
pubmed-meshheading:16616735-Ventricular Fibrillation
|
| pubmed:year |
2006
|
| pubmed:articleTitle |
A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation.
|
| pubmed:affiliation |
Cardiology Department, University Hospital Basel, Switzerland.
|
| pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|