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Brugada syndrome is a heterogeneous heart rhythm disorder characterized by an atypical right bundle block pattern with ST-segment elevation and T-wave inversion in the right precordial leads. Loss-of-function mutations in SCN5A encoding the cardiac sodium channel Na(V)1.5 are associated with Brugada syndrome. We found novel mutations in SCN5A in 2 different families diagnosed with Brugada syndrome and investigated how those affected Na(V)1.5 channel function.

Characterization and Mechanisms of Action of Novel Na V 1.5 Channel Mutations Associated With Brugada Syndrome

Characterization and Mechanisms of Action of Novel Na _V 1.5 Channel Mutations Associated With Brugada Syndrome