Article
Enhanced fast-inactivated state stability of cardiac sodium channels by a novel voltage sensor SCN5A mutation, R1632C, as a cause of atypical Brugada syndrome.
Heart rhythm - 1 Nov 2015
Nakajima Tadashi, Kaneko Yoshiaki, Saito Akihiro, Ota Masaki, Iijima Takafumi, Kurabayashi Masahiko
Abstract excerpt
BACKGROUND: Mutations in SCN5A, which encodes the cardiac voltage-gated sodium channels, can be associated with multiple electrophysiological phenotypes. A novel SCN5A R1632C mutation, located in the domain IV-segment 4 voltage sensor, was identified in a young male patient who had a syncopal episode during exercise and presented with atrial tachycardia, sinus node dysfunction, and Brugada syndrome. OBJECTIVE: We...
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