Novel Cardiocerebral Channelopathy Associated with a <i>KCND3</i> V392I Mutation-Reference-Cited by-同舟云学术

Novel Cardiocerebral Channelopathy Associated with a KCND3 V392I Mutation

Published:2020-09-29 Issue:5 Volume:61 Page:1049-1055
ISSN:1349-2365
Container-title:International Heart Journal
language:en
Short-container-title:Int. Heart J.

Author:

Nakajima Tadashi¹,Kawabata-Iwakawa Reika²,Kaneko Yoshiaki¹,Hamano Shin-ichiro³,Sano Rie⁴,Tamura Shuntaro¹,Hasegawa Hiroshi¹,Kobari Takashi¹,Kominato Yoshihiko⁴,Nishiyama Masahiko²⁵,Kurabayashi Masahiko¹

Affiliation:

1. Department of Cardiovascular Medicine, Gunma University Graduate School of Medicine

2. Division of Integrated Oncology Research, Gunma University Initiative for Advanced Research

3. Division of Neurology, Saitama Children's Medical Center

4. Department of Legal Medicine, Gunma University Graduate School of Medicine

5. Department of Molecular Pharmacology and Oncology, Gunma University Graduate School of Medicine

Publisher

International Heart Journal (Japanese Heart Journal)

Subject

Cardiology and Cardiovascular Medicine,General Medicine

Link

https://www.jstage.jst.go.jp/article/ihj/61/5/61_20-203/_pdf

Reference19 articles.

1. 1. Li MCH, O'Brien TJ, Todaro M, Powell KL. Acquired cardiac channelopathies in epilepsy: Evidence, mechanisms, and clinical significance. Epilepsia 2019; 60: 1753-67.

2. 2. Giudicessi JR, Ye D, Tester DJ, et al. Transient outward current (I (to) ) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome. Heart Rhythm 2011; 8: 1024-32.

3. 3. Olesen MS, Refsgaard L, Holst AG, et al. A novel KCND3 gain-of-function mutation associated with early-onset of persistent lone atrial fibrillation. Cardiovasc Res 2013; 98: 488-95.

4. 4. Takayama K, Ohno S, Ding WG, et al. A de novo gain-of-function KCND3 mutation in early repolarization syndrome. Heart Rhythm 2019; 16: 1698-706.

5. 5. Giudicessi JR, Ye D, Kritzberger CJ, et al. Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death. Hum Mutat 2012; 33: 989-97.

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1. Novel KCNQ1 Q234K variant, identified in patients with long QT syndrome and epileptiform activity, induces both gain- and loss-of-function of slowly activating delayed rectifier potassium currents;Frontiers in Physiology;2024-07-19

2. Primary Electrical Heart Disease—Principles of Pathophysiology and Genetics;International Journal of Molecular Sciences;2024-02-02

3. Association of Cardiac Electrical Disorders With KCND3 Gene Mutation;Cureus;2023-02-03

4. Cardiocerebral channelopathy caused by KCND3 mutation in a child: A case report;Frontiers in Pediatrics;2022-11-28

5. Gene mutations in comorbidity of epilepsy and arrhythmia;Journal of Neurology;2022-11-14