Cardiac sodium channel mutations: why so many phenotypes?

doi:10.1038/nrcardio.2014.85

Back to search

Article

Cardiac sodium channel mutations: why so many phenotypes?

Nature reviews. Cardiology - 1 Oct 2014

Liu Man, Yang Kai-Chien, Dudley Samuel C

Abstract excerpt

Mutations of the cardiac sodium channel (Nav1.5) can induce gain or loss of channel function. Gain-of-function mutations can cause long QT syndrome type 3 and possibly atrial fibrillation, whereas loss-of-function mutations are associated with a variety of phenotypes, such as Brugada syndrome, ca...

Topics

DNA
DNA Mutational Analysis
Heart Diseases
Humans
Mutation
Myocardium
Phenotype
Sodium Channels

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.