FUNCTIONAL EFFECTS OF SCN5A CHANNEL MUTATIONS AND THE RISK OF LIFE-THREATENING EVENTS IN TYPE 3 LONG QT SYNDROME

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY(2016)

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摘要
LQT3 syndrome is caused by SCN5A mutations that prolong cardiac repolarization. SCN5A dysfunction can be due to increased sustained currents, but other mechanisms are also observed. We evaluated a possible association between ion-channel dysfunction, arrhythmic risk and response to treatment.We
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