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Article

Challenges in Brugada Syndrome Stratification: Investigating SCN5A Mutation Localization and Clinical Phenotypes.

International journal of molecular sciences - 23 Nov 2023

Tarantino Adriana, Ciconte Giuseppe, Ghiroldi Andrea, Mastrocinque Flavio, Micaglio Emanuele, Boccellino Antonio, Negro Gabriele, Piccoli Marco, Cirillo Federica, Vicedomini Gabriele, Santinelli Vincenzo, Anastasia Luigi, Pappone Carlo

Abstract excerpt

Brugada Syndrome (BrS) is a genetic heart condition linked to sudden cardiac death. Though the SCN5A gene is primarily associated with BrS, there is a lack of comprehensive studies exploring the connection between SCN5A mutation locations and the clinical presentations of the syndrome. This study aimed to address this gap and gain further understanding of the syndrome. The investigation classified 36 high-risk...

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Identifiers

PMID: 38068978
DOI: 10.3390/ijms242316658
PMCID: PMC10706434

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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.

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