ArticleBMC medical genetics2009
The role of CACNA1S in predisposition to malignant hyperthermia.
Article in BMC medical genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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Who cites it
55 citing papers in PubMed, 115 citations in OpenAlex.
- Malignant Hyperthermia in Slavonic cohort - clinical and genetic findings beyond standard diagnostics.Orphanet journal of rare diseases · 2026Article
- Acute rhabdomyolysis as the presenting symptom in two females with a DMD mutation.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Article
- A novel CACNA1S gene variant in a child with hypokalemic periodic paralysis: a case report and literature review.BMC pediatrics · 2023Review
- CaHandbook of experimental pharmacology · 2023Article
- A reconstituted depolarization-induced Ca2+ release platform for validation of skeletal muscle disease mutations and drug discovery.The Journal of general physiology · 2022Article
- Malignant Hyperthermia in PICU-From Diagnosis to Treatment in the Light of Up-to-Date Knowledge.Children (Basel, Switzerland) · 2022Review
- Perioperative management of malignant hyperthermia during general anesthesia: A report of two cases.Clinical case reports · 2022Article
- Article
- Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.Neurogenetics · 2022Article
- Combination of Genome-Wide Polymorphisms and Copy Number Variations of Pharmacogenes in Koreans.Journal of personalized medicine · 2021Article
- Association study in Mexican patients with thyrotoxic hypokalemic periodic paralysis.Biomedical reports · 2020Article
- A "crush" course on rhabdomyolysis: risk stratification and clinical management update for the perioperative clinician.Journal of anesthesia · 2020Review
- Skeletal muscle CaPflugers Archiv : European journal of physiology · 2020Review
- Intracellular calcium leak lowers glucose storage in human muscle, promoting hyperglycemia and diabetes.eLife · 2020Article
- PharmGKB summary: very important pharmacogene information for CACNA1S.Pharmacogenetics and genomics · 2020Article
- Personalized pediatric anesthesia and pain management: problem-based review.Pharmacogenomics · 2020Review
- An Assessment of Penetrance and Clinical Expression of Malignant Hyperthermia in Individuals Carrying Diagnostic Ryanodine Receptor 1 Gene Mutations.Anesthesiology · 2019Article
- Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity ofPharmacogenomics · 2019Article
- The current status of malignant hyperthermia.Journal of biomedical research · 2019Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundMalignant hyperthermia (MH) is an inherited pharmacogenetic disorder of skeletal muscle, characterised by an elevated calcium release from the skeletal muscle sarcoplasmic reticulum. The dihydropyridine receptor (DHPR) plays an essential role in excitation-contraction coupling and calcium homeostasis in skeletal muscle. This study focuses on the gene CACNA1S which encodes the alpha1 subunit of the DHPR, in order to establish whether CACNA1S plays a major role in MH susceptibility in the UK.
methodsWe investigate the CACNA1S locus in detail in 50 independent MH patients, the largest study to date, to identify novel variants that may predispose to disease and also to characterise the haplotype structure across CACNA1S.
resultsWe present CACNA1S cDNA sequencing data from 50 MH patients in whom RYR1 mutations have been excluded, and subsequent mutation screening analysis. Furthermore we present haplotype analysis of unphased CACNA1S SNPs to (1) assess CACNA1S haplotype frequency differences between susceptible MH cases and a European control group and (2) analyse population-based association via clustering of CACNA1S haplotypes based on disease risk.
conclusionThe study identified a single potentially pathogenic change in CACNA1S (p.Arg174Trp), and highlights that the haplotype structure across CACNA1S is diverse, with a high degree of variability.
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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.