Article
SCN5A channelopathies--an update on mutations and mechanisms.
Progress in biophysics and molecular biology - 1 Jan 2000
Zimmer Thomas, Surber Ralf
Abstract excerpt
Voltage-gated Na+ channels mediate the rapid upstroke of the action potential in excitable tissues. Na(v)1.5, encoded by the SCN5A gene, is the predominant isoform in the heart. Mutations in SCN5A are associated with distinct cardiac excitation disorders often resulting in life-threatening arrhythmias. This review outlines the currently known SCN5A mutations linked to three distinct cardiac rhythm disorders: long...
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