Evidence map›Paper›PMID 40869992›Full record

ArticleGenes2025

Genetic Panel Testing for Malignant Hyperthermia in Japan: Discovery of Novel Variants and Clinical Implications.

Hirotsugu Miyoshi, Keiko Mukaida, Sachiko Otsuki, Kenshiro Kido, Ayako Sumii, Tsuyoshi Ikeda, Guoqiang Xia, Yuko Noda, Tomomi Ishii, Satoshi Kamiya and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

  1. Article
  2. Pathogenic CaCommunications biology · 2026
    Article
  3. Review
  4. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Hirotsugu MiyoshiDepartment of Anesthesiology and Critical Care, Hiroshima University, Hiroshima 34-8551, Japan.ORCID 0000-0002-1375-5344
Keiko MukaidaDepartment of Anesthesiology and Critical Care, Hiroshima University, Hiroshima 34-8551, Japan.ORCID 0000-0001-7255-852X
Sachiko OtsukiDepartment of Anesthesiology and Critical Care, Hiroshima University, Hiroshima 34-8551, Japan.
Kenshiro KidoDepartment of Anesthesiology and Critical Care, Hiroshima University, Hiroshima 34-8551, Japan.ORCID 0000-0002-4449-1695
Ayako SumiiDepartment of Anesthesiology and Critical Care, Hiroshima University, Hiroshima 34-8551, Japan.ORCID 0009-0005-7077-249X
Tsuyoshi IkedaDepartment of Anesthesiology and Critical Care, Hiroshima University, Hiroshima 34-8551, Japan.ORCID 0000-0002-7277-1248
Guoqiang XiaDepartment of Anesthesiology and Critical Care, Hiroshima University, Hiroshima 34-8551, Japan.ORCID 0009-0000-6142-7700
Yuko NodaDepartment of Anesthesiology and Critical Care, Hiroshima University, Hiroshima 34-8551, Japan.
Tomomi IshiiDepartment of Anesthesiology and Critical Care, Hiroshima University, Hiroshima 34-8551, Japan.ORCID 0009-0008-9957-2899
Satoshi KamiyaDepartment of Anesthesiology and Critical Care, Hiroshima University, Hiroshima 34-8551, Japan.ORCID 0000-0001-9827-1404
Soshi NarasakiDepartment of Anesthesiology and Critical Care, Hiroshima University, Hiroshima 34-8551, Japan.
Hiroshi NiinaiDepartment of Anesthesiology and Critical Care, Hiroshima University, Hiroshima 34-8551, Japan.
Yasuo M TsutsumiDepartment of Anesthesiology and Critical Care, Hiroshima University, Hiroshima 34-8551, Japan.ORCID 0000-0002-1997-082X

Funding

Scientific Research from the Japan Society for the Promotion of Science 22K09070Scientific Research from the Japan Society for the Promotion of Science 22K09095Scientific Research from the Japan Society for the Promotion of Science 22K16602Scientific Research from the Japan Society for the Promotion of Science 23K08332Scientific Research from the Japan Society for the Promotion of Science 23K08382Scientific Research from the Japan Society for the Promotion of Science 25K12146
6 · The paper itself

Abstract

backgroundMalignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle triggered by certain anesthetic agents. While Ryanodine Receptor 1 (

methodsWe conducted gene panel testing targeting 24 calcium-related genes in 338 individuals from 247 Japanese families with suspected or confirmed MH. Variants were analyzed on a gene-by-gene basis, and their pathogenicity was assessed using in silico prediction tools. Additionally, patients were classified into subgroups based on the results of the calcium-induced calcium release (CICR) assay and the Clinical Grading Scale (CGS) score.

resultsCandidate pathogenic variants were identified in 118 families (48.2%), including 73 (29.8%) in

conclusionsOur 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.

Indexed as

Malignant HyperthermiaRyanodine Receptor Calcium Release ChannelAdolescentAdultCalcium Channels, L-TypeChildChild, PreschoolFemaleGenetic Predisposition to DiseaseGenetic TestingHumansJapanMaleMiddle AgedYoung AdultCACNA1S protein, humanCalcium Channels, L-TypeRyanodine Receptor Calcium Release ChannelRYR1 protein, humanCACNA1Sgene panel testmalignant hyperthermiaRYR1TRPV1

Identifiers

PMID40869992
PMCPMC12385375

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.