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Article

Role of CACNA1C in Brugada syndrome: Prevalence and phenotype of probands referred for genetic testing.

Heart rhythm - 1 May 2022

Novelli Valeria, Memmi Mirella, Malovini Alberto, Mazzanti Andrea, Liu Nian, Yanfei Ruan, Bongianino Rossana, Denegri Marco, Monteforte Nicola, Bloise Raffaella, Morini Massimo, Napolitano Carlo

Abstract excerpt

BACKGROUND: Evidence for the role of the CACNA1C gene, which encodes for the α-subunit of the cardiac L-type calcium channel CaV1.2, as a cause of the BrS3 variant of Brugada syndrome (BrS) is contradictory. OBJECTIVE: The purpose of this study was to define in a large BrS cohort the yield of molecular screening and to test whether appropriate patient selection could improve clinical utility. METHODS: A total of...

Topics

Brugada Syndrome
Calcium Channels, L-Type
Genetic Testing
Humans
Mutation
NAV1.5 Voltage-Gated Sodium Channel
Phenotype
Prevalence

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 34999275
DOI: 10.1016/j.hrthm.2021.12.032

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-34999275-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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