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

Functional Analysis of SCN5A Genetic Variants Associated with Brugada Syndrome.

Cardiology - 1 Jan 2022

Mikhailova Valeria B, Karpushev Alexey V, Vavilova Viola D, Klimenko Ekaterina S, Tulintseva Tatyana, Yudina Yulia S, Vasichkina Elena S, Zhorov Boris S, Kostareva Anna

Abstract excerpt

BACKGROUND: Brugada syndrome (BrS) is a rare inherited cardiac arrhythmia with increased risk of sudden cardiac death. Mutations in gene SCN5A, which encodes the α-subunit of cardiac voltage-gated sodium channel NaV1.5, have been identified in over 20% of patients with BrS. However, only a small fraction of NaV1.5 variants, which are associated with BrS, are characterized in electrophysiological experiments....

Read the complete abstract on PubMed

Topics

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

Share to Brugada Syndrome
Share to Mutation

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

Share to NAV1.5 Voltage-Gated Sodium Channel

Source

Identifiers

PMID: 34628415
DOI: 10.1159/000519857

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

Functional Analysis of SCN5A Genetic Variants Associated with Brugada Syndrome.PMID 34628415Read ↗

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

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

SCN5A(K817E), a novel Brugada syndrome-associated mutation that alters the activation gating of NaV1.5 channel.Semantic proximity Read ↗

p.D372H: A novel SCN5A mutation associated with Brugada syndromeSemantic proximity Read ↗

Investigations of the Navβ1b sodium channel subunit in human ventricle; functional characterization of the H162P Brugada syndrome mutant.Semantic proximity Read ↗

Loss of function associated with novel mutations of the SCN5A gene in patients with Brugada syndrome.Semantic proximity Read ↗

Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome.Semantic proximity Read ↗

Contribution of Cardiac Sodium Channel β-Subunit Variants to Brugada Syndrome.Semantic proximity Read ↗

Brugada Syndrome Caused by Sodium Channel Dysfunction Associated with a SCN1B Variant A197V.Semantic proximity Read ↗

Identification of a novel missense SCN5A mutation in a Chinese Han family with Brugada syndrome.Semantic proximity Read ↗

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

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

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