ArticleAnesthesiology2015
Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness.
Article in Anesthesiology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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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.
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Who cites it
38 citing papers in PubMed, 69 citations in OpenAlex.
- Article
- Genomics and artificial intelligence: Re-engineering the anaesthesia paradigm for the 21Indian journal of anaesthesia · 2026Article
- Malignant Hyperthermia in Slavonic cohort - clinical and genetic findings beyond standard diagnostics.Orphanet journal of rare diseases · 2026Article
- The Clinical, Histological, and Genetic Spectrum ofJournal of clinical medicine · 2026Article
- Novel CACNA1S Mutation c.3491 A>C in Hypokalemic Periodic Paralysis: First Report with Functional Validation.Journal of molecular neuroscience : MN · 2026Article
- Population prevalence of high-risk pharmacogenetic configurations in a healthy older Australian reference cohort.Frontiers in pharmacology · 2026Article
- Article
- Genetic Testing for Malignant Hyperthermia Susceptibility-Threading the Needle in the Haystack.Genes · 2025Review
- [RYR1 myopathies in childhood: phenotype-genotype correlation and incidence].Revista de neurologia · 2024Observational
- Beyond heatwaves: A nuanced view of temperature-related mortality.Temperature (Austin, Tex.) · 2024Review
- Comparison of Transcriptomic Changes in Survivors of Exertional Heat Illness with Malignant Hyperthermia Susceptible Patients.International journal of molecular sciences · 2023Article
- Article
- Intravenous dantrolene in hypermetabolic syndromes: a survey of the U.S. Veterans Health Administration database.BMC anesthesiology · 2022Article
- Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility.Nature communications · 2022Article
- Comment on "Overlapping Mechanisms of Exertional Heat Stroke and Malignant Hyperthermia: Evidence vs. Conjecture".Sports medicine (Auckland, N.Z.) · 2022Article
- Classic and exertional heatstroke.Nature reviews. Disease primers · 2022Review
- Molecular and cellular basis of genetically inherited skeletal muscle disorders.Nature reviews. Molecular cell biology · 2021Review
- A Review of Genetic and Physiological Disease Mechanisms Associated With Cav1 Channels: Implications for Incomplete Congenital Stationary Night Blindness Treatment.Frontiers in genetics · 2021Article
- Anaesthesia and neuromuscular disorders: what a neurologist needs to know.Practical neurology · 2020Review
- The Contractile Phenotype of Skeletal Muscle in TRPV1 Knockout Mice is Gender-Specific and Exercise-Dependent.Life (Basel, Switzerland) · 2020Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundVariants in RYR1 are associated with the majority of cases of malignant hyperthermia (MH), a form of heat illness pharmacogenetically triggered by general anesthetics, and they have also been associated with exertional heat illness (EHI). CACNA1S has also been implicated in MH. The authors applied a targeted next-generation sequencing approach to identify variants in RYR1 and CACNA1S in a cohort of unrelated patients diagnosed with MH susceptibility. They also provide the first comprehensive report of sequencing of these two genes in a cohort of survivors of EHI.
methodsDNA extracted from blood was genotyped using a "long" polymerase chain reaction technique, with sequencing on the Illumina GAII or MiSeq platforms (Illumina Inc., USA). Variants were assessed for pathogenicity using bioinformatic approaches. For further follow-up, DNA from additional family members and up to 211 MH normal and 556 MH-susceptible unrelated individuals was tested.
resultsIn 29 MH patients, the authors identified three pathogenic and four novel RYR1 variants, with a further five RYR1 variants previously reported in association with MH. Three novel RYR1 variants were found in the EHI cohort (n = 28) along with two more previously reported in association with MH. Two other variants were reported previously associated with centronuclear myopathy. The authors found one and three rare variants of unknown significance in CACNA1S in the MH and EHI cohorts, respectively.
conclusionsTargeted next-generation sequencing proved efficient at identifying diagnostically useful and potentially implicated variants in RYR1 and CACNA1S in MH and EHI.
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Registered trials
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.