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Updated: May 27, 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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KCNJ2基因的新突变导致长QT间隔综合征7型和学习障碍:一个病例报告

Hua-Yong Zhang1,2, Yong Zhang1,2

  • 1Department of Cardiology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.

Medicine
|February 19, 2025
PubMed
概括

长QT综合征7型 (LQT7) 是一种罕见的遗传疾病. 这一案例凸显了管理LQT7心律失常的挑战,表明可植入心脏转换器-除器是其他治疗方法失败时的关键选择.

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Electrocardiogram Recordings in Anesthetized Mice using Lead II

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Class III antiarrhythmic drugs are a group of medications that can prolong action potentials in the heart. They achieve this by blocking potassium channels or enhancing inward currents from sodium channels. However, these drugs have a unique property of "reverse use-dependence," which is most pronounced at slower heart rates and can lead to torsades de pointes—a specific type of arrhythmia. However, it is essential to note that excessive QT interval prolongation—a measure of...
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