A Case of Long QT Syndrome with a De Novo Novel Nonsense Mutation（c.1490G>A, p.Trp497Ter）in the KCNH2 gene-Reference-Cited by-同舟云学术

A Case of Long QT Syndrome with a De Novo Novel Nonsense Mutation（c.1490G>A, p.Trp497Ter）in the KCNH2 gene

Published:2023-09-01 Issue:3 Volume:72 Page:111-122
ISSN:0513-1731
Container-title:Yamaguchi Medical Journal
language:en
Short-container-title:Yamaguchi Medical Journal

Author:

HIDAKA Reina¹,SUEHIRO Yutaka²,KODAMA Masaki³,FUKUDA Masakazu³,KUNIMUNE Yuki³,OKAYAMA Naoko³,NAKARAHA Yukiko³,NISHIOKA Mitsuaki³,KOBAYASHI Shigeki⁴,YANO Masafumi⁴,YAMASAKI Takahiro²

Affiliation:

1. Department of Medicine, Yamaguchi University School of Medicine

2. Department of Oncology & Laboratory Medicine, Yamaguchi University Graduate School of Medicine

3. Division of Laboratory, Yamaguchi University Hospital

4. Division of Cardiology, Department of Medicine and Clinical Science, Yamaguchi University Graduate School of Medicine

Publisher

Yamaguchi University Medical Association

Subject

General Medicine

Link

https://www.jstage.jst.go.jp/article/ymj/72/3/72_111/_pdf

Reference30 articles.

1. 1 遺伝性不整脈の診療に関するガイドライン2017年改訂版．2018［Available from：https:// www.j-circ.or.jp/cms/wp-content/uploads/2017/12/JCS2017_aonuma_h.pdf.（2023-03-27）

2. 2 鈴木　博．遺伝性不整脈の診断と治療：QT延長症候群，QT短縮症候群，CPVT，Brugada症候群について．Pediatric Cardiology and Cardiac Surgery 2019；35：249-263.

3. 3 吉永　正，泉田　直，岩本　眞，牛ノ濱　大，住友　直，田内　宣，高橋　良，富田　英，長嶋　正，堀米　仁，山内　邦，阿部　勝，新垣　義，上野　倫，太田　邦，佐藤　誠，高木　純，立野　滋，檜垣　高，市田　蕗，白石　裕，杉　薫，堀江　稔．器質的心疾患を認めない不整脈の学校生活管理指導ガイドライン（2013年改訂版）．Pediatric Cardiology and Cardiac Surgery 2013；29：277-290.

4. 4 Okayama N, Hamanaka Y, Suehiro Y, Hasui Y, Nakamura J, Hinoda Y. Association of interleukin-10 promoter single nucleotide polymorphisms -819 T/C and -592 A/C with aging. J Gerontol A Biol Sci Med Sci 2005；60：1525-1529.

5. 5 Vandenberg JI, Perry MD, Perrin MJ, Mann SA, Ke Y, Hill AP. hERG K（+）channels: structure, function, and clinical significance. Physiol Rev 2012；92：1393-1478.