Loss-of-Function Sodium Channel Mutations in Infancy
نویسندگان
چکیده
منابع مشابه
Loss-of-function sodium channel mutations in infancy: a pattern unfolds.
The role of channelopathies in the pathogenesis of sudden cardiac death in patients with structurally normal hearts is a rapidly evolving story.1 Many ion channels are involved, including loss-of-function sodium channelopathies, of which the phenotypic spectrum ranges from lethal arrhythmias to asymptomatic carriers and includes Brugada syndrome (BrS), cardiac conduction disease, sick sinus syn...
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متن کاملGenetic control of sodium channel function.
Sodium ion (Na) influx through cardiac Na channels triggers the action potential in cells of the working myocardium and the specialized conduction system. Na channels thus act as key molecular determinants of cardiac excitability and impulse propagation. Na channel dysfunction may cause life-threatening arrhythmias. Here, we review the ways in which Na channel function can be aberrant due to ge...
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ژورنال
عنوان ژورنال: Circulation
سال: 2012
ISSN: 0009-7322,1524-4539
DOI: 10.1161/circulationaha.111.071837