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Compound Heterozygous Mutations in the SCN5A-encoded Nav1.5 Cardiac Sodium Channel Resulting in Atrial Standstill and His-Purkinje System Disease

Overview
Journal J Pediatr
Specialty Pediatrics
Date 2014 Aug 31
PMID 25171853
Citations 11
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Abstract

An 11-year-old girl on evaluation for syncope was found to have progressive sinus node dysfunction and His-Purkinje system disease with atrial standstill. Genetic analysis revealed compound heterozygous mutations of the SCN5A gene in a novel combination.

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