Population
Heterologous cells expressing SCN5A constructs
Comparison
Coexpression of the R282H-SCN5A mutation with… vs Expression of the mutation alone or coexpression…
Design
Preclinical
Authors
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Does not alter Brugada management; leaves open whether polymorphism rescue affects human penetrance or outcomes.
The H558R-SCN5A polymorphism can rescue the trafficking and function of the Brugada syndrome-associated R282H-SCN5A mutation, providing a mechanism for incomplete penetrance.
Poelzing et al. (2006) studied this question.
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