European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility

2015/07/18 by Philip M. Hopkins, P.M. Hopkins, H. Rüffert +12 · 28 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Ion channel regulation and function #Cardiac electrophysiology and arrhythmias #Inhalation and Respiratory Drug Delivery

paper · pdf · doi:10.1093/bja/aev225

Cited by

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• Recognition and management of a malignant hyperthermia crisis: updated 2024 guideline from the European Malignant Hyperthermia Group
• Spinal cord injury-related thermoregulatory impairment masks a fatal malignant hyperthermia crisis: a case report
• PharmGKB summary: succinylcholine pathway, pharmacokinetics/pharmacodynamics. [europepmc]
• PharmGKB summary: very important pharmacogene information for RYR1. [europepmc]
• Functional analysis of RYR1 variants linked to malignant hyperthermia. [europepmc]
• Assessing the pathogenicity of RYR1 variants in malignant hyperthermia. [europepmc]
• Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept. [europepmc]
• Voltage modulates halothane-triggered Ca 2+ release in malignant hyperthermia-susceptible muscle. [europepmc]
• Genetic epidemiology of malignant hyperthermia in the UK. [europepmc]
• Malignant hyperthermia, environmental heat stress, and intracellular calcium dysregulation in a mouse model expressing the p.G2435R variant of RYR1. [europepmc]
• Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes. [europepmc]
• Permeabilised skeletal muscle reveals mitochondrial deficiency in malignant hyperthermia-susceptible individuals. [europepmc]
• Anomalous K v 7 channel activity in human malignant hyperthermia syndrome unmasks a key role for H 2 S and persulfidation in skeletal muscle. [europepmc]
• RYR1 Sequence Variants in Myopathies: Expression and Functional Studies in Two Families. [europepmc]
• PharmGKB summary: very important pharmacogene information for CACNA1S. [europepmc]
• Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients. [europepmc]
• The current status of malignant hyperthermia. [europepmc]
• Intracellular calcium leak lowers glucose storage in human muscle, promoting hyperglycemia and diabetes. [europepmc]
• Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019. [europepmc]
• Bioenergetic defects in muscle fibers of RYR1 mutant knock-in mice associated with malignant hyperthermia. [europepmc]
• Anaesthesia and neuromuscular disorders: what a neurologist needs to know. [europepmc]
• Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature. [europepmc]
• Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility. [europepmc]
• Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility. [europepmc]
• Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies. [europepmc]
• Neuromuscular symptoms in patients with RYR1 -related malignant hyperthermia and rhabdomyolysis. [europepmc]
• Real Evidence and Misconceptions about Malignant Hyperthermia in Children: A Narrative Review. [europepmc]