Key result
A novel SCN5A variant (p.P1506S) caused loss of function in Nav1.5 channels, while cascade screening revealed a KCNH2 p.R25W mutation in an SCN5A-negative family member with Brugada syndrome.
Case Report
Demonstrates the complex, potentially polygenic genetic background of Brugada syndrome within a single large family.
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May support expanded variant screening in Brugada families; leaves open polygenic contributions pending larger studies.
Saber et al. (2015) conducted a case report in Brugada syndrome. SCN5A p.P1506S variant and KCNH2 p.R25W mutation vs. Wild-type Nav1.5 channels / family members without the mutation was evaluated on Electrophysiological properties of Nav1.5 channels and genetic screening results. A novel SCN5A variant (p.P1506S) caused loss of function in Nav1.5 channels, while cascade screening revealed a KCNH2 p.R25W mutation in an SCN5A-negative family member with Brugada syndrome.
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