Article
Cardiac sodium channel dysfunction in sudden infant death syndrome.
Circulation - 23 Jan 2007
Wang Dao W, Desai Reshma R, Crotti Lia, Arnestad Marianne, Insolia Roberto, Pedrazzini Matteo, Ferrandi Chiara, Vege Ashild, Rognum Torleiv, Schwartz Peter J, George Alfred L
Abstract excerpt
BACKGROUND: Mutations in genes responsible for the congenital long-QT syndrome, especially SCN5A, have been identified in some cases of sudden infant death syndrome. In a large-scale collaborative genetic screen, several SCN5A variants were identified in a Norwegian sudden infant death syndrome cohort (n=201). We present functional characterization of 7 missense variants (S216L, R680H, T1304M, F1486L, V1951L,...
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