Novel Loss-of-Function Variant, Cys1384Phe, in <i>SCN5A</i> Is Associated With an Overlapping Phenotype of Brugada Syndrome, Sick Sinus Syndrome, and Dilated Cardiomyopathy
The novel Cys1384Phe variant in SCN5A is a complete loss-of-function mutation with dominant-negative suppression, and associated with overlapping phenotypes of BrS, SSS, and DCM.
Authors
- Hiroshi Morita (ORCID: https://orcid.org/0000-0001-6419-1246)
- Kohei Yamauchi (ORCID: https://orcid.org/0000-0002-7955-7930)
- Masayuki Nakada (ORCID: https://orcid.org/0000-0001-7914-4362)
- Mitsuru Takami (ORCID: https://orcid.org/0000-0002-1768-802X)
- Seiko Ohno (ORCID: https://orcid.org/0000-0003-1209-8896)
- Soichiro Yamashita (ORCID: https://orcid.org/0000-0002-8507-6949)
- Koji Fukuzawa (ORCID: https://orcid.org/0000-0003-4276-479X)
- Kohei Ishibashi (ORCID: https://orcid.org/0000-0001-7890-9554)
- Koichi Kato (ORCID: https://orcid.org/0000-0002-6125-0789)
- Takeshi Aiba (ORCID: https://orcid.org/0000-0001-5590-7388)
- Kengo Kusano
Institutions
- Obayashi (Japan) (JP)
- Shiga University of Medical Science (JP)
- Okayama University (JP)
- Shiga University (JP)
- Hyogo Prefectural Awaji Medical Center (JP)
- National Cerebral and Cardiovascular Center (JP)
- Kobe University (JP)
Publication Details
- Journal
- Circulation Journal
- Published
- 2025-10-02
- DOI
- https://doi.org/10.1253/circj.cj-25-0283
- Citations
- 1
- Primary Topic
- Cardiac electrophysiology and arrhythmias
- Type
- article
- Field-Weighted Citation Impact
- 1.39