FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2039744547> ?p ?o ?g. }

• W2039744547 endingPage "292" @default.
• W2039744547 startingPage "285" @default.
• W2039744547 abstract "<h3>Objectives</h3> The purpose of this study was to identify risk markers in patients with Brugada syndrome. <h3>Background</h3> Patients with Brugada syndrome who experience syncope or aborted sudden death are at high risk for recurrent lethal arrhythmias. The prognosis and therapeutic approaches in asymptomatic individuals with a Brugada-type ECG (asymptomatic Brugada syndrome) are controversial. <h3>Methods</h3> We genetically screened 30 asymptomatic probands (29 men and 1 woman; mean age 47.1 years) exhibiting a spontaneous Brugada-type ECG. Family members of patients with Brugada syndrome were excluded from the study. <h3>Results</h3> Twenty-nine of 30 patients (96.7%) remained symptom-free for at least 3 years. One patient (case 1) with a family history of sudden death died suddenly during sleep. Ventricular fibrillation was induced by programmed electrical stimulation in 14 of 18 subjects (78%), but none of these 18 subjects developed spontaneous ventricular arrhythmias. Genetic screening failed to identify <i>SCN5A</i> mutations in most cases but demonstrated a novel double missense mutation (K1527R and A1569P) located on the same allele in another asymptomatic subject (case 2). Heterologously expressed mutant Na channels exhibited a negative shift of steady-state inactivation (9.2 mV) and enhanced slow inactivation, suggesting this individual harbors a subclinical channel dysfunction compatible with symptomatic Brugada syndrome. <h3>Conclusions</h3> Asymptomatic individuals with a Brugada-type ECG generally have a better prognosis than their symptomatic counterparts, but a subgroup of these individuals may have a poor prognosis. Severe Na channel dysfunction as a result of <i>SCN5A</i> mutations may not be sufficient to cause symptoms or arrhythmias in patients with Brugada syndrome, suggesting unknown factors or modifier genes influence arrhythmogenesis." @default.
• W2039744547 created "2016-06-24" @default.
• W2039744547 creator A5015910234 @default.
• W2039744547 creator A5017412031 @default.
• W2039744547 creator A5023005896 @default.
• W2039744547 creator A5026028224 @default.
• W2039744547 creator A5034024238 @default.
• W2039744547 creator A5045377876 @default.
• W2039744547 creator A5059316181 @default.
• W2039744547 creator A5080195904 @default.
• W2039744547 creator A5085426100 @default.
• W2039744547 creator A5090316816 @default.
• W2039744547 creator A5091849037 @default.
• W2039744547 date "2005-03-01" @default.
• W2039744547 modified "2023-10-09" @default.
• W2039744547 title "Double SCN5A mutation underlying asymptomatic Brugada syndrome" @default.
• W2039744547 cites W1491803208 @default.
• W2039744547 cites W1495271557 @default.
• W2039744547 cites W1963930947 @default.
• W2039744547 cites W1979950746 @default.
• W2039744547 cites W2001634291 @default.
• W2039744547 cites W2003918316 @default.
• W2039744547 cites W2008125074 @default.
• W2039744547 cites W2013880873 @default.
• W2039744547 cites W2021524288 @default.
• W2039744547 cites W2037015793 @default.
• W2039744547 cites W2055569075 @default.
• W2039744547 cites W2068643322 @default.
• W2039744547 cites W2083594415 @default.
• W2039744547 cites W2084451187 @default.
• W2039744547 cites W2085873341 @default.
• W2039744547 cites W2086020748 @default.
• W2039744547 cites W2097312037 @default.
• W2039744547 cites W2097841528 @default.
• W2039744547 cites W2107958165 @default.
• W2039744547 cites W2111936199 @default.
• W2039744547 cites W2117073110 @default.
• W2039744547 cites W2121570319 @default.
• W2039744547 cites W2122198208 @default.
• W2039744547 cites W2122319852 @default.
• W2039744547 cites W2127292729 @default.
• W2039744547 cites W2127965368 @default.
• W2039744547 cites W2134192812 @default.
• W2039744547 cites W2135080211 @default.
• W2039744547 cites W2150777135 @default.
• W2039744547 cites W2170828372 @default.
• W2039744547 cites W220488953 @default.
• W2039744547 doi "https://doi.org/10.1016/j.hrthm.2004.11.022" @default.
• W2039744547 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15851320" @default.
• W2039744547 hasPublicationYear "2005" @default.
• W2039744547 type Work @default.
• W2039744547 sameAs 2039744547 @default.
• W2039744547 citedByCount "19" @default.
• W2039744547 countsByYear W20397445472012 @default.
• W2039744547 countsByYear W20397445472014 @default.
• W2039744547 countsByYear W20397445472015 @default.
• W2039744547 countsByYear W20397445472016 @default.
• W2039744547 countsByYear W20397445472019 @default.
• W2039744547 crossrefType "journal-article" @default.
• W2039744547 hasAuthorship W2039744547A5015910234 @default.
• W2039744547 hasAuthorship W2039744547A5017412031 @default.
• W2039744547 hasAuthorship W2039744547A5023005896 @default.
• W2039744547 hasAuthorship W2039744547A5026028224 @default.
• W2039744547 hasAuthorship W2039744547A5034024238 @default.
• W2039744547 hasAuthorship W2039744547A5045377876 @default.
• W2039744547 hasAuthorship W2039744547A5059316181 @default.
• W2039744547 hasAuthorship W2039744547A5080195904 @default.
• W2039744547 hasAuthorship W2039744547A5085426100 @default.
• W2039744547 hasAuthorship W2039744547A5090316816 @default.
• W2039744547 hasAuthorship W2039744547A5091849037 @default.
• W2039744547 hasBestOaLocation W20397445472 @default.
• W2039744547 hasConcept C104317684 @default.
• W2039744547 hasConcept C113280763 @default.
• W2039744547 hasConcept C126322002 @default.
• W2039744547 hasConcept C164705383 @default.
• W2039744547 hasConcept C187212893 @default.
• W2039744547 hasConcept C2775935837 @default.
• W2039744547 hasConcept C2777382798 @default.
• W2039744547 hasConcept C2777910003 @default.
• W2039744547 hasConcept C2781005686 @default.
• W2039744547 hasConcept C2993353509 @default.
• W2039744547 hasConcept C501734568 @default.
• W2039744547 hasConcept C54355233 @default.
• W2039744547 hasConcept C71924100 @default.
• W2039744547 hasConcept C75563809 @default.
• W2039744547 hasConcept C86803240 @default.
• W2039744547 hasConceptScore W2039744547C104317684 @default.
• W2039744547 hasConceptScore W2039744547C113280763 @default.
• W2039744547 hasConceptScore W2039744547C126322002 @default.
• W2039744547 hasConceptScore W2039744547C164705383 @default.
• W2039744547 hasConceptScore W2039744547C187212893 @default.
• W2039744547 hasConceptScore W2039744547C2775935837 @default.
• W2039744547 hasConceptScore W2039744547C2777382798 @default.
• W2039744547 hasConceptScore W2039744547C2777910003 @default.
• W2039744547 hasConceptScore W2039744547C2781005686 @default.
• W2039744547 hasConceptScore W2039744547C2993353509 @default.
• W2039744547 hasConceptScore W2039744547C501734568 @default.
• W2039744547 hasConceptScore W2039744547C54355233 @default.

• next