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

Multiple genetic variations in sodium channel subunits in a case of sudden infant death syndrome.

Pacing and clinical electrophysiology : PACE - 1 Jun 2018

Denti Federico, Bentzen Bo Hjorth, Wojciak Julianne, Thomsen Nancy Mutsaers, Scheinman Melvin, Schmitt Nicole

Abstract excerpt

BACKGROUND: Dysfunction of NaV 1.5 encoded by SCN5A accounts for approximately half of the channelopathic SIDS cases. We investigated the functional effect of two gene variants identified in the same patient, one in SCN5A and one in SCN1Bb. The aim of the study was to risk stratify the proband's family. METHODS: The family was referred for cardiovascular genetic evaluation to assess familial risk of cardiac...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Variation
Share to Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to NAV1.5 Voltage-Gated Sodium Channel

Share to Pedigree

Share to Sudden Infant Death

Source

Identifiers

PMID: 29572929
DOI: 10.1111/pace.13328

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Multiple genetic variations in sodium channel subunits in a case of sudden infant death syndrome.PMID 29572929Read ↗

Infant sudden death: Mutations responsible for impaired Nav1.5 channel trafficking and function.Semantic proximity Read ↗

The role of the sodium current complex in a nonreferred nationwide cohort of sudden infant death syndrome.Semantic proximity Read ↗

Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome.Semantic proximity Read ↗

Cardiac sodium channel gene variants and sudden cardiac death in women.Semantic proximity Read ↗

Characterization of 2 genetic variants of Na(v) 1.5-arginine 689 found in patients with cardiac arrhythmias.Semantic proximity Read ↗

Disease Modifiers of Inherited SCN5A ChannelopathySemantic proximity Read ↗

Cardiac sodium channel dysfunction in sudden infant death syndrome.Semantic proximity Read ↗

Cardiac Arrhythmias Related to Sodium Channel Dysfunction.Semantic proximity Read ↗

De novo mutation in the SCN5A gene associated with early onset of sudden infant death.Semantic proximity Read ↗

GPD1L-A306del modifies sodium current in a family carrying the dysfunctional SCN5A-G1661R mutation associated with Brugada syndrome.Semantic proximity Read ↗

Cardiac channelopathies associated with infantile fatal ventricular arrhythmias: from the cradle to the bench.Semantic proximity Read ↗

Novel SCN5A p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths.Semantic proximity Read ↗

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