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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
07:15

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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タイプ5の長QT症候群の国際的多センター評価:低浸透性一次不律症

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
まとめ

長QT症候群5型 (LQT5) に関連した稀なKCNE1変異は,低ECG浸透率を示し,これらの変異を持つほとんどの個人は臨床症状を発症しません. これは,KCNE1変異がQT延長を誘発するが,必ずしもLQT5疾患を誘発することはないことを示唆している.

キーワード:
心律乱症遺伝学長いQTシンドロームパンテランス心臓発作による突然死

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