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Updated: Dec 30, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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5型长QT综合征的国际多中心评估:低透性初级失律性疾病

Jason D Roberts1, S Yukiko Asaki2, Andrea Mazzanti3,4

  • 1Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, Ontario, Canada (J.D.R., I.E.H., M.D.Y., L.J.G., P.L.-S.).

Circulation
|January 17, 2020
PubMed
概括

与长QT综合征5型 (LQT5) 相关的罕见KCNE1变异显示出低ECG透率,这意味着大多数这些变异的个体不会出现临床症状. 这表明KCNE1变异会导致QT延长,但并不总是导致明显的LQT5疾病.

关键词:
节律失常遗传学长时间QT综合征穿透性突发心脏病死亡

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