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Article

A novel gain-of-function mutation in SCN5A responsible for multifocal ectopic Purkinje-related premature contractions.

Human mutation - 1 Apr 2020

Doisne Nicolas, Waldmann Victor, Redheuil Alban, Waintraub Xavier, Fressart Véronique, Ader Flavie, Fossé Lucie, Hidden-Lucet Françoise, Gandjbakhch Estelle, Neyroud Nathalie

Abstract excerpt

Recently, four SCN5A mutations have been associated with Multifocal Ectopic Purkinje-related Premature Contractions (MEPPC), a rare cardiac syndrome combining polymorphic ventricular arrhythmia with dilated cardiomyopathy (DCM). Here, we identified a novel heterozygous mutation in SCN5A (c.611C>A, pAla204Glu) in a young woman presenting with polymorphic premature ventricular contractions (PVCs) and DCM. After...

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Identifiers

PMID: 31930659
DOI: 10.1002/humu.23981

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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.

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