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Article

Characterization of a novel SCN5A mutation associated with Brugada syndrome reveals involvement of DIIIS4-S5 linker in slow inactivation.

Cardiovascular research - 1 Dec 2007

Casini Simona, Tan Hanno L, Bhuiyan Zahurul A, Bezzina Connie R, Barnett Phil, Cerbai Elisabetta, Mugelli Alessandro, Wilde Arthur A M, Veldkamp Marieke W

Abstract excerpt

OBJECTIVE: Mutations in SCN5A, the gene encoding the alpha-subunit of the cardiac sodium channel (Na(v)1.5), have been associated with various inherited arrhythmia syndromes, including Brugada syndrome (BrS). Here, we report the functional consequences of a novel missense SCN5A mutation, G1319V, identified in a BrS patient. The G1319V mutation is located in the loop connecting transmembrane segments 4 and 5 in...

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PMID: 17854786
DOI: 10.1016/j.cardiores.2007.08.005

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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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