Compound heterozygous SCN5A gene mutations in asymptomatic Brugada syndrome child

Loss-of-function mutations in the <em>SCN5A</em> gene, encoding the cardiac Nav1.5 sodium channel, have been previously associated with Brugada syndrome (BrS). Despite the low prevalence of the disease, we identified a patient carrying two <em>SCN5A</em> mutations. We aimed a...

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Bibliographic Details
Main Authors: Elena Sommariva, Matteo Vatta, Yutao Xi, Simone Sala, Tomohiko Ai, Jie Cheng, Carlo Pappone, Maurizio Ferrari, Sara Benedetti
Format: Article
Language:English
Published: MDPI AG 2012-09-01
Series:Cardiogenetics
Subjects: