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2020 • E1784K, the most common Brugada syndrome and long-QT syndrome type 3 mutant, disrupts sodium channel inactivation through two separate mechanisms.

Authors: Colin H. Peters, Abeline R. Watkins, Olivia L Poirier, Peter C. Ruben

Abstract: Inheritable and de novo variants of voltage-gated sodium channels that lead to sudden cardiac death can affect several different aspects of channel function, making pharmaceutical treatment difficult. Peters et al. show that the E1784K mutant in Nav1.5 alters channel function through two distinct and separable mechanisms.

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E1784K, the most common Brugada syndrome and long-QT syndrome type 3 mutant, disrupts sodi (...)

Colin H. Peters, Abeline R. Watkins, Olivia L. Poirier, Peter C. Ruben

Journal of General Physiology · 2020

Biophysics | Cell biology | Genetics |

Open Access

Article