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

Electrophysiological characterization of a large set of novel variants in the SCN5A-gene: identification of novel LQTS3 and BrS mutations.

Pflugers Archiv : European journal of physiology - 1 Aug 2016

Ortiz-Bonnin Beatriz, Rinné Susanne, Moss Robin, Streit Anne K, Scharf Michael, Richter Katrin, Stöber Anika, Pfeufer Arne, Seemann Gunnar, Kääb Stefan, Beckmann Britt-Maria, Decher Niels

Abstract excerpt

SCN5A encodes for the α-subunit of the cardiac voltage-gated sodium channel Nav1.5. Gain-of-function mutations in SCN5A are related to congenital long QT syndrome (LQTS3) characterized by delayed cardiac repolarization, leading to a prolonged QT interval in the ECG. Loss-of-function mutations in SCN5A are related to Brugada syndrome (BrS), characterized by an ST-segment elevation in the right precordial leads...

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 Cardiac Conduction System Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electrophysiological Phenomena

Share to Heart Conduction System

Share to NAV1.5 Voltage-Gated Sodium Channel

Share to Oocytes

Share to Phenotype

Share to Xenopus laevis

Source

Identifiers

PMID: 27287068
DOI: 10.1007/s00424-016-1844-3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Electrophysiological characterization of a large set of novel variants in the SCN5A-gene: identification of novel LQTS3 and BrS mutations.PMID 27287068Read ↗

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

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

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

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

Functional Analysis of SCN5A Genetic Variants Associated with Brugada Syndrome.Semantic proximity Read ↗

The cardiac sodium channel gene SCN5A and its gene product NaV1.5: Role in physiology and pathophysiology.Semantic proximity Read ↗

Distinct Features of Probands With Early Repolarization and Brugada Syndromes Carrying SCN5A Pathogenic Variants.Semantic proximity Read ↗

SCN5A Variants: Association With Cardiac DisordersSemantic proximity Read ↗

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

Functional Characterisation of the Rare SCN5A p.E1225K Variant, Segregating in a Brugada Syndrome Familial Case, in Human Cardiomyocytes from Pluripotent Stem Cells.Semantic proximity Read ↗

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