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October 1, 2020Journal of Anaesthesiology Clinical PharmacologyOpen Access

Genetics of Malignant Hyperthermia

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Why the study?

Determining whether malignant hyperthermia susceptibility can be principally genetically determined is of high importance to prevent its lethality through better understanding of pathogenesis.

Design

Brief report and review

Authors

DBDavid S. BeebeUniversity of MinnesotaVPVikram PuramStanford UniversitySGSrdjan GajicUniversity of Minnesota

Discussion

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Implication

Genetic testing for MHS remains adjunctive to CHCT; leaves open whether it can become the principal diagnostic method.

Structured PICO

P
Population
Patients with malignant hyperthermia susceptibility (MHS) or malignant hyperthermia (MH)

This review provides updates on the genetics of malignant hyperthermia susceptibility to better understand the condition and current research.

Cite This Study

Beebe et al. (2020) studied this question.

synapsesocial.com/papers/6a704439b27f15817827463ahttps://doi.org/10.4103/joacp.joacp_360_19
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Presence of Two Different Genetic Traits in Malignant Hyperthermia Families2002 · 201 citations
  2. 2An Assessment of Penetrance and Clinical Expression of Malignant Hyperthermia in Individuals Carrying Diagnostic Ryanodine Receptor 1 Gene Mutations2019 · 62 citations
  3. 3The role of CACNA1Sin predisposition to malignant hyperthermia2009 · 124 citations
  4. 4Screening of the Entire Ryanodine Receptor Type 1 Coding Region for Sequence Variants Associated with Malignant Hyperthermia Susceptibility in the North American Population2005 · 150 citations
  5. 5Functional Defects in Six Ryanodine Receptor Isoform-1 (RyR1) Mutations Associated with Malignant Hyperthermia and Their Impact on Skeletal Excitation-Contraction Coupling2003 · 114 citations