| pubmed-article:10590249 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:10590249 | lifeskim:mentions | umls-concept:C1142166 | lld:lifeskim |
| pubmed-article:10590249 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:10590249 | lifeskim:mentions | umls-concept:C0439799 | lld:lifeskim |
| pubmed-article:10590249 | lifeskim:mentions | umls-concept:C0205171 | lld:lifeskim |
| pubmed-article:10590249 | lifeskim:mentions | umls-concept:C0678227 | lld:lifeskim |
| pubmed-article:10590249 | pubmed:issue | 12 | lld:pubmed |
| pubmed-article:10590249 | pubmed:dateCreated | 2000-1-4 | lld:pubmed |
| pubmed-article:10590249 | pubmed:abstractText | Mutations in SCN5A, the gene encoding the cardiac Na(+) channel, have been identified in 2 distinct diseases associated with sudden death: one form of the long-QT syndrome (LQT(3)) and the Brugada syndrome. We have screened SCN5A in a large 8-generation kindred characterized by a high incidence of nocturnal sudden death, and QT-interval prolongation and the "Brugada ECG" occurring in the same subjects. An insertion of 3 nucleotides (TGA) at position 5537, predicted to cause an insertion of aspartic acid (1795insD) in the C-terminal domain of the protein, was linked to the phenotype and was identified in all electrocardiographically affected family members. ECGs were obtained from 79 adults with a defined genetic status (carriers, n=43; noncarriers, n=36). In affected individuals, PR and QRS durations and QT intervals are prolonged (P<0.0001 for all parameters). ST segment elevation in the right precordial leads is present as well (P<0.0001). Twenty-five family members died suddenly, 16 of them during the night. Expression of wild-type and mutant Na(+) channels in Xenopus oocytes revealed that the 1795insD mutation gives rise to a 7.3-mV negative shift of the steady-state inactivation curve and an 8.1-mV positive shift of the steady-state activation curve. The functional consequence of both shifts is likely to be a reduced Na(+) current during the upstroke of the action potential. LQT(3) and Brugada syndrome are allelic disorders but may also share a common genotype. | lld:pubmed |
| pubmed-article:10590249 | pubmed:language | eng | lld:pubmed |
| pubmed-article:10590249 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10590249 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:10590249 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10590249 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:10590249 | pubmed:issn | 0009-7330 | lld:pubmed |
| pubmed-article:10590249 | pubmed:author | pubmed-author:ViersmaJ WJW | lld:pubmed |
| pubmed-article:10590249 | pubmed:author | pubmed-author:Bink-Boelkens... | lld:pubmed |
| pubmed-article:10590249 | pubmed:author | pubmed-author:RookM BMB | lld:pubmed |
| pubmed-article:10590249 | pubmed:author | pubmed-author:WildeA AAA | lld:pubmed |
| pubmed-article:10590249 | pubmed:author | pubmed-author:VeldkampM WMW | lld:pubmed |
| pubmed-article:10590249 | pubmed:author | pubmed-author:MannensM MMM | lld:pubmed |
| pubmed-article:10590249 | pubmed:author | pubmed-author:van LangenI... | lld:pubmed |
| pubmed-article:10590249 | pubmed:author | pubmed-author:BezzinaCC | lld:pubmed |
| pubmed-article:10590249 | pubmed:author | pubmed-author:Tan-Sindhunat... | lld:pubmed |
| pubmed-article:10590249 | pubmed:author | pubmed-author:van Den... | lld:pubmed |
| pubmed-article:10590249 | pubmed:author | pubmed-author:PostmaA VAV | lld:pubmed |
| pubmed-article:10590249 | pubmed:author | pubmed-author:van Der... | lld:pubmed |
| pubmed-article:10590249 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:10590249 | pubmed:volume | 85 | lld:pubmed |
| pubmed-article:10590249 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:10590249 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:10590249 | pubmed:pagination | 1206-13 | lld:pubmed |
| pubmed-article:10590249 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:10590249 | pubmed:meshHeading | pubmed-meshheading:10590249... | lld:pubmed |
| pubmed-article:10590249 | pubmed:meshHeading | pubmed-meshheading:10590249... | lld:pubmed |
| pubmed-article:10590249 | pubmed:meshHeading | pubmed-meshheading:10590249... | lld:pubmed |
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| pubmed-article:10590249 | pubmed:meshHeading | pubmed-meshheading:10590249... | lld:pubmed |
| pubmed-article:10590249 | pubmed:meshHeading | pubmed-meshheading:10590249... | lld:pubmed |
| pubmed-article:10590249 | pubmed:meshHeading | pubmed-meshheading:10590249... | lld:pubmed |
| pubmed-article:10590249 | pubmed:meshHeading | pubmed-meshheading:10590249... | lld:pubmed |
| pubmed-article:10590249 | pubmed:meshHeading | pubmed-meshheading:10590249... | lld:pubmed |
| pubmed-article:10590249 | pubmed:articleTitle | A single Na(+) channel mutation causing both long-QT and Brugada syndromes. | lld:pubmed |
| pubmed-article:10590249 | pubmed:affiliation | Departments of Clinical Genetics , Academic Medical Center, Amsterdam, The Netherlands. | lld:pubmed |
| pubmed-article:10590249 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:10590249 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:6331 | entrezgene:pubmed | pubmed-article:10590249 | lld:entrezgene |
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