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Article

A nonsense SCN5A mutation associated with Brugada-type electrocardiogram and intraventricular conduction defects.

Pacing and clinical electrophysiology : PACE - 1 Sept 2009

Samani Kaveh, Ai Tomohiko, Towbin Jeffrey A, Brugada Ramon, Shuraih Mossaab, Xi Yutao, Wu Geru, Cheng Jie, Vatta Matteo

Abstract excerpt

Mutations of SCN5A, gene-encoding alpha-subunit of cardiac sodium channel, can cause mixed phenotypes of Brugada syndrome (BrS) and cardiac conduction diseases (CCD). We have identified a nucleotide change of SCN5A (4178T > G), which results in a nonsense mutation, L1393X, in a 36-year-old Caucasian man who presented with intraventricular conduction delays and BrS-type electrocardiogram change. To study...

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Identifiers

PMID: 19719504
DOI: 10.1111/j.1540-8159.2009.02470.x
PMCID: PMC2747666

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Source receipt: pubmed, retrieved 7 Sept 2026.

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