Linked Life Data

19606473

Source:http://linkedlifedata.com/resource/pubmed/id/19606473

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
2009-9-1
pubmed:abstractText
Brugada syndrome (BrS) is a condition characterized by a distinct ST-segment elevation in the right precordial leads of the electrocardiogram and, clinically, by an increased risk of cardiac arrhythmia and sudden death. The condition predominantly exhibits an autosomal dominant pattern of inheritance with an average prevalence of 5:10,000 worldwide. Currently, more than 100 mutations in seven genes have been associated with BrS. Loss-of-function mutations in SCN5A, which encodes the alpha-subunit of the Na(v)1.5 sodium ion channel conducting the depolarizing I(Na) current, causes 15-20% of BrS cases. A few mutations have been described in GPD1L, which encodes glycerol-3-phosphate dehydrogenase-1 like protein; CACNA1C, which encodes the alpha-subunit of the Ca(v)1.2 ion channel conducting the depolarizing I(L,Ca) current; CACNB2, which encodes the stimulating beta2-subunit of the Ca(v)1.2 ion channel; SCN1B and SCN3B, which, in the heart, encodes beta-subunits of the Na(v)1.5 sodium ion channel, and KCNE3, which encodes the ancillary inhibitory beta-subunit of several potassium channels including the Kv4.3 ion channel conducting the repolarizing potassium I(to) current. BrS exhibits variable expressivity, reduced penetrance, and "mixed phenotypes," where families contain members with BrS as well as long QT syndrome, atrial fibrillation, short QT syndrome, conduction disease, or structural heart disease, have also been described.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
1098-1004
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
30
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1256-66
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
The genetic basis of Brugada syndrome: a mutation update.
pubmed:affiliation
Department of Clinical Biochemistry and Immunology, Statens Serum Institut, Copenhagen, Denmark.
pubmed:publicationType
Journal Article, Review