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Article

Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome.

Circulation. Arrhythmia and electrophysiology - 1 Feb 2013

Calloe Kirstine, Refaat Marwan M, Grubb Soren, Wojciak Julianne, Campagna Joan, Thomsen Nancy Mutsaers, Nussbaum Robert L, Scheinman Melvin M, Schmitt Nicole

Abstract excerpt

BACKGROUND: Brugada syndrome is a heterogeneous heart rhythm disorder characterized by an atypical right bundle block pattern with ST-segment elevation and T-wave inversion in the right precordial leads. Loss-of-function mutations in SCN5A encoding the cardiac sodium channel Na(V)1.5 are associated with Brugada syndrome. We found novel mutations in SCN5A in 2 different families diagnosed with Brugada syndrome and...

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PMID: 23424222
DOI: 10.1161/CIRCEP.112.974220

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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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