Sodium channelopathies: do we really understand what's going on?

Abstract excerpt

Long-QT syndrome, Brugada syndrome, and conduction disease may be caused by mutations in the cardiac sodium channel gene SCN5A, and from the ECG one can already presume either a gain- or a loss-of-function defect. We describe a family harboring 2 SCN5A mutations: the ΔKPQ mutation, the "classical" gain-of-function mutation associated with Long-QT syndrome, and the I1660V mutation, a loss-of-function mutation...

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