Article
Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death.
Heart rhythm - 1 Nov 2004
Rossenbacker Tom, Carroll Sheila J, Liu Huajun, Kuipéri Cuno, de Ravel Thomy J L, Devriendt Koen, Carmeliet Peter, Kass Robert S, Heidbüchel Hein
Abstract excerpt
OBJECTIVES: The purpose of this study was to determine the clinical and biophysical characteristics of a novel SCN5A mutation. BACKGROUND: Brugada syndrome and isolated cardiac conduction defect have been linked to SCN5A mutations. METHODS: Eleven members of a western European family underwent electrophysiologic investigations and mutation analysis of the SCN5A gene. Wild-type and mutant SCN5A channels were...
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