ArticleJournal of arrhythmia2017
Cardiac conduction defects and Brugada syndrome: A family with overlap syndrome carrying a nonsense SCN5A mutation.
Article in Journal of arrhythmia, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
5 citing papers in PubMed, 11 citations in OpenAlex.
- Exploring epicardial arrhythmogenic substrates in long QT syndrome type III overlapping with J-wave syndrome.HeartRhythm case reports · 2025Article
- SCN1Bβ mutations that affect their association with Kv4.3 underlie early repolarization syndrome.Journal of cellular and molecular medicine · 2018Article
- Dysfunctional Nav1.5 channels due to SCN5A mutations.Experimental biology and medicine (Maywood, N.J.) · 2018Review
- Brugada syndrome and sinus node dysfunction.Journal of arrhythmia · 2018Review
- Review
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPhenotypes often differ even within family members carrying the same
methodsTo detect the genetic modifiers, we performed targeted panel sequencing of the coding region of 46 genes that are related to primary arrhythmia syndrome, by using a bench-top, next generation sequencer. Phenotype-genotype relationships were evaluated among the family members.
resultsIndex proband was a 13-year old (yo) boy with cardiac conduction defect as well as BrS. Genetic analysis revealed that he and his three asymptomatic family members carried a novel nonsense mutation:
conclusionPhenotypic differences between the proband and his brother carrying the same nonsense
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Registered trials
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