Case Report: P857R CACNA1C Variant Causing Long QT Syndrome Type 8 Without Other Phenotypes Identified on Whole-exome Analysis
Author:
Affiliation:
1. Department of Pediatric Cardiology, Yokohama City University Hospital
2. Department of Pediatrics, Saiseikai Yokohamashi Tobu Hospital
3. Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center
Publisher
The Japanese Society of Pediatric Cardiology and Cardiac Surgery
Subject
Polymers and Plastics,General Environmental Science
Link
https://www.jstage.jst.go.jp/article/jspccs/36/4/36_2020-0004/_pdf
Reference26 articles.
1. 1) Shimizu W, Makimoto H, Yamagata K, et al: Association of genetic and clinical aspects of congenital long QT syndrome with life-threatening arrhythmias in Japanese patients. JAMA Cardiol 2019; 4: 246–254
2. 3) Splawski I, Timothy KW, Sharpe LM, et al: CaV 1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 2004; 119: 19–31
3. 4) Splawski I, Timothy KW, Decher N, et al: Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc Natl Acad Sci USA 2005; 102: 8089–8096
4. 5) Boczek NJ, Best JM, Tester DJ, et al: Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome. Circ Cardiovasc Genet 2013; 6: 279–289
5. 6) Fukuyama M, Wang Q, Kato K, et al: Long QT syndrome type 8: Novel CACNA1C mutations causing QT prolongation and variant phenotypes. Europace 2014; 16: 1828–1837
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