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Article

Identification of a SCN5A founder mutation causing sudden death, Brugada syndrome, and conduction blocks in Southern Italy.

Heart rhythm - 1 Oct 2021

Curcio Antonio, Malovini Alberto, Mazzanti Andrea, Memmi Mirella, Gambelli Patrick, La Rosa Francesca, Bloise Raffaella, Indolfi Ciro, Bellazzi Riccardo, Napolitano Carlo

Abstract excerpt

BACKGROUND: The genetic architecture of Brugada syndrome (BrS) is emerging as an increasingly complex area of investigation. The identification of genetically homogeneous populations can provide mechanistic insights and improve genotype-phenotype correlation. OBJECTIVE: To characterize and define the clinical implications of a novel BrS founder mutation. Using a haplotype-based approach we investigated whether 2...

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PMID: 34245912
DOI: 10.1016/j.hrthm.2021.07.003

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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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