Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Dual variation in SCN5A and CACNB2b underlies the development of cardiac conduction disease without Brugada syndrome.

Pacing and clinical electrophysiology : PACE - 1 Mar 2010

Hu Dan, Barajas-Martinez Hector, Nesterenko Vladislav V, Pfeiffer Ryan, Guerchicoff Alejandra, Cordeiro Jonathan M, Curtis Anne B, Pollevick Guido D, Wu Yuesheng, Burashnikov Elena, Antzelevitch Charles

Abstract excerpt

BACKGROUND: Inherited loss of function mutations in SCN5A have been linked to overlapping syndromes including cardiac conduction disease and Brugada syndrome (BrS). The mechanisms responsible for the development of one without the other are poorly understood. METHODS: Direct sequencing was performed in a family with cardiac conduction disease. Wild-type (WT) and mutant channels were expressed in TSA201 cells for...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Alleles

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Analysis of Variance

Share to Microscopy, Confocal

Share to Muscle Proteins

Share to Mutation

Share to NAV1.5 Voltage-Gated Sodium Channel

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 20025708
DOI: 10.1111/j.1540-8159.2009.02642.x
PMCID: PMC2916871

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dual variation in SCN5A and CACNB2b underlies the development of cardiac conduction disease without Brugada syndrome.PMID 20025708Read ↗

A novel three base-pair deletion in domain two of the cardiac sodium channel causes Brugada syndrome.Semantic proximity Read ↗

Clinical Spectrum of SCN5A Mutations: Long QT Syndrome, Brugada Syndrome, and Cardiomyopathy.Semantic proximity Read ↗

De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome.Semantic proximity Read ↗

Novel Loss-of-Function Variant, Cys1384Phe, in SCN5A Is Associated With an Overlapping Phenotype of Brugada Syndrome, Sick Sinus Syndrome, and Dilated Cardiomyopathy.Semantic proximity Read ↗

Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome.Semantic proximity Read ↗

Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome.Semantic proximity Read ↗

SCN5A channelopathies--an update on mutations and mechanisms.Semantic proximity Read ↗

Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect.Semantic proximity Read ↗

Genetic and Molecular Mechanisms in Brugada Syndrome.Semantic proximity Read ↗

Functional Characterization of Two Novel Mutations in SCN5A Associated with Brugada Syndrome Identified in Italian Patients.Semantic proximity Read ↗

Unravelling Novel SCN5A Mutations Linked to Brugada Syndrome: Functional, Structural, and Genetic Insights.Semantic proximity Read ↗

Sodium channel mutations and arrhythmias.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.