Systematic re-evaluation of SCN5A variants associated with Brugada syndrome.

Nathan C Denham Charles Michael PearmanWern Yew DingJohan WaktareDhiraj GuptaRichard SnowdonMark HallRobert CooperSimon ModiDerick ToddSaagar Mahida

Published in: Journal of cardiovascular electrophysiology (2018)

Based on contemporary ACMG-AMP guidelines, only a minority of SCN5A variants implicated in BrS fulfill the criteria for pathogenicity or likely pathogenicity.

Keyphrases

copy number
biofilm formation
protein kinase
clinical practice
case report
pseudomonas aeruginosa
escherichia coli
staphylococcus aureus