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Article

Na(+) channel mutation that causes both Brugada and long-QT syndrome phenotypes: a simulation study of mechanism.

Circulation - 12 Mar 2002

Clancy Colleen E, Rudy Yoram

Abstract excerpt

BACKGROUND: Complex physiological interactions determine the functional consequences of gene abnormalities and make mechanistic interpretation of phenotypes extremely difficult. A recent example is a single mutation in the C terminus of the cardiac Na(+) channel, 1795insD. The mutation causes two distinct clinical syndromes, long QT (LQT) and Brugada, leading to life-threatening cardiac arrhythmias. Coexistence...

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Identifiers

PMID: 11889015
DOI: 10.1161/hc1002.105183
PMCID: PMC1997279

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Source receipt: pubmed, retrieved 7 Sept 2026.

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