Genetic Panel Testing for Malignant Hyperthermia in Japan: Discovery of Novel Variants and Clinical Implications
Our findings confirm the predominant role of RYR1 and CACNA1S in MH susceptibility in the Japanese population and highlight additional candidate genes that may contribute to the condition. Broader genetic screening and functional validation studies are warranted to further elucidate the polygenic nature of MH.
Authors
- Yasuo M Tsutsumi (ORCID: https://orcid.org/0000-0002-1997-082X)
- Keiko Mukaida (ORCID: https://orcid.org/0000-0001-7255-852X)
- Yuko Noda (ORCID: https://orcid.org/0000-0002-0624-8299)
- Guoqiang Xia (ORCID: https://orcid.org/0009-0000-6142-7700)
- Soshi Narasaki (ORCID: https://orcid.org/0000-0002-9838-078X)
- Hirotsugu Miyoshi (ORCID: https://orcid.org/0000-0002-1375-5344)
- Kenshiro Kido (ORCID: https://orcid.org/0000-0002-4449-1695)
- Hiroshi Niinai
- Sachiko Otsuki (ORCID: https://orcid.org/0000-0003-4771-9867)
- Satoshi Kamiya (ORCID: https://orcid.org/0000-0001-9827-1404)
- Ayako Sumii (ORCID: https://orcid.org/0009-0005-7077-249X)
- Tsuyoshi Ikeda (ORCID: https://orcid.org/0000-0002-7277-1248)
- Toshimitsu Ishii (ORCID: https://orcid.org/0009-0008-9957-2899)
Institutions
- Hiroshima University (JP)
- Hiroshima University Hospital (JP)
Publication Details
- Journal
- Genes
- Published
- 2025-08-11
- DOI
- https://doi.org/10.3390/genes16080944
- Citations
- 1
- Primary Topic
- Ion channel regulation and function
- Type
- article
- Field-Weighted Citation Impact
- 0.81