A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation

Abstract excerpt

Our understanding of the genetic basis of disease has expanded with the identification of rare DNA sequence variations (“mutations”) that evoke inherited syndromes such as cystic fibrosis, congenital epilepsy, and cardiac arrhythmias. Common sequence variants (“polymorphisms”) have also been implicated as risk factors in multiple diseases. Mutations in SCN5A, the cardiac Na+ channel gene, that cause a reduction in...

Topics

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• Cardiac electrophysiology and arrhythmias
• Cardiac pacing and defibrillation studies
• Ion channel regulation and function

Identifiers and source

Literature Corpus work

43e6051d-8fac-5654-b366-500bce454146

DOI

10.1172/jci200316879