Variant-specific therapy for long QT syndrome type 3.
作者信息
Moore Oliver M, Dorn Lauren E, Wehrens Xander H T
机构信息
Cardiovascular Research Institute, Baylor College of Medicine, Houston, Texas; Department of Integrative Physiology, Baylor College of Medicine, Houston, Texas; Department of Neuroscience, Baylor College of Medicine, Houston, Texas.
Cardiovascular Research Institute, Baylor College of Medicine, Houston, Texas; Department of Integrative Physiology, Baylor College of Medicine, Houston, Texas.
出版信息
Heart Rhythm. 2023 May;20(5):718-719. doi: 10.1016/j.hrthm.2023.02.013. Epub 2023 Feb 15.
Abstract
摘要
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本文引用的文献
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Functional characterization and identification of a therapeutic for a novel SCN5A-F1760C variant causing type 3 long QT syndrome refractory to all guideline-directed therapies.功能特征分析及新型 SCN5A-F1760C 变异致 3 型长 QT 综合征治疗药物鉴定：所有指南导向治疗均无效。
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A distinct molecular mechanism by which phenytoin rescues a novel long QT 3 variant.苯妥英钠通过独特的分子机制挽救新型长 QT3 变异。
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Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na+-channel-blocking antiepileptic drugs.用钠通道阻滞剂抗癫痫药物治疗雷特综合征小鼠模型中的心律失常。
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Mutation-specific risk in two genetic forms of type 3 long QT syndrome.两种 3 型长 QT 综合征遗传形式的突变特异性风险。
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Slow sodium channel inactivation and use-dependent block modulated by the same domain IV S6 residue.缓慢钠通道失活和使用依赖性阻滞受同一结构域IV S6残基调节。
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