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

A Brugada syndrome mutation (p.S216L) and its modulation by p.H558R polymorphism: standard and dynamic characterization.

Cardiovascular research - 1 Sept 2011

Marangoni Stefano, Di Resta Chiara, Rocchetti Marcella, Barile Lucio, Rizzetto Riccardo, Summa Aurora, Severi Stefano, Sommariva Elena, Pappone Carlo, Ferrari Maurizio, Benedetti Sara, Zaza Antonio

Abstract excerpt

AIMS: The Na(+) channel mutation (p.S216L), previously associated with type 3 long-QT syndrome (LQT3) phenotype, and a common polymorphism (p.H558R) were detected in a patient with an intermittent Brugada syndrome (BS) ECG pattern. The study was aimed to assess the p.S216L electrical phenotype, its modulation by p.H558R, and to identify abnormalities compatible with a mixed BS-LQT3 phenotype. METHODS AND RESULTS:...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Electrocardiography

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

Share to Mutation

Share to NAV1.5 Voltage-Gated Sodium Channel

Share to Patch-Clamp Techniques

Share to Phenotype

Share to Polymorphism, Genetic

Share to Sodium Channels

Source

Identifiers

PMID: 21705349
DOI: 10.1093/cvr/cvr142

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

A Brugada syndrome mutation (p.S216L) and its modulation by p.H558R polymorphism: standard and dynamic characterization.PMID 21705349Read ↗

Cardiac sodium channels and inherited electrophysiological disorders: an update on the pharmacotherapy.Semantic proximity Read ↗

Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome.Semantic proximity Read ↗

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 ↗

Two Distinct Congenital Arrhythmias Evoked by a Multidysfunctional Na <sup>+</sup> ChannelSemantic proximity Read ↗

Sodium overload due to a persistent current that attenuates the arrhythmogenic potential of a novel LQT3 mutationSemantic proximity Read ↗

A Novel SCN5A Variant Associated with Abnormal Repolarization, Atrial Fibrillation, and Reversible Cardiomyopathy.Semantic proximity Read ↗

Identification of an INa-dependent and Ito-mediated proarrhythmic mechanism in cardiomyocytes derived from pluripotent stem cells of a Brugada syndrome patient.Semantic proximity Read ↗

Hypokalaemia and bradycardia unmask the loss-of-function phenotype of a Brugada Syndrome SCN5A mutation.Semantic proximity Read ↗

Sodium channel variants in heart disease: expanding horizons.Semantic proximity Read ↗

Cardiac sodium channel diseases.Semantic proximity Read ↗

A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families.Semantic proximity Read ↗

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