{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T16:22:54Z","timestamp":1787847774437,"version":"build-2784847793"},"reference-count":19,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>Malignant hyperthermia susceptibility (MHS) and the associated condition malignant hyperthermia (MH) are rare but well-known disorders in the field of anesthesiology. MHS is usually determined by a history of a family member developing a positive episode during general anesthesia and then confirmed by an invasive caffeine halothane contracture test (CHCT). More recently, within the context of MH as a pharmacogenetic disorder, the question of whether or not MHS can be principally genetically determined is of high importance as knowledge of detailed pathogenesis may prevent against its largely invariable lethality if untreated. Thus, in this brief report, genetic terms, as well as updates in the genetics of MHS, will be reviewed in order to better understand both the condition and the current research.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/joacp.joacp_360_19","type":"journal-article","created":{"date-parts":[[2021,1,18]],"date-time":"2021-01-18T07:20:28Z","timestamp":1610954428000},"page":"552-555","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":14,"title":["Genetics of Malignant Hyperthermia"],"prefix":"10.4103","volume":"36","author":[{"given":"David","family":"Beebe","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vikram V.","family":"Puram","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Srdjan","family":"Gajic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bharat","family":"Thyagarajan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kumar G.","family":"Belani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-22-20260203","doi-asserted-by":"crossref","first-page":"391","DOI":"10.4097\/kjae.2012.63.5.391","article-title":"Malignant hyperthermia","volume":"63","author":"Kim","year":"2012","journal-title":"Korean J Anesthesiol"},{"key":"R2-22-20260203","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1038\/ncpcardio0419","article-title":"Mechanisms of disease: Ryanodine receptor defects in heart failure and fatal 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population","volume":"102","author":"Sambuughin","year":"2005","journal-title":"Anesthesiology"},{"key":"R12-22-20260203","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1002\/humu.9442","article-title":"Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia","volume":"27","author":"Galli","year":"2006","journal-title":"Hum Mutat"},{"key":"R13-22-20260203","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1186\/1471-2350-10-104","article-title":"The role of CACNA1S in predisposition to malignant hyperthermia","volume":"10","author":"Carpenter","year":"2009","journal-title":"BMC Med Genet"},{"key":"R14-22-20260203","doi-asserted-by":"crossref","first-page":"2050","DOI":"10.1016\/S0006-3495(01)75854-7","article-title":"Divergent effects of the malignant hyperthermia-susceptible Arg615 \u2192 Cys mutation on the Ca2+ and Mg2+ dependence of the RyR1","volume":"81","author":"Balog","year":"2001","journal-title":"Biophys J"},{"key":"R15-22-20260203","doi-asserted-by":"crossref","first-page":"25722","DOI":"10.1074\/jbc.M302165200","article-title":"Functional defects in six ryanodine receptor isoform-1 (RyR1) mutations associated with malignant hyperthermia and their impact on skeletal excitation\u2013contraction coupling","volume":"278","author":"Yang","year":"2003","journal-title":"J Biol Chem"},{"key":"R16-22-20260203","first-page":"216","article-title":"Mechanism of action of dantrolene sodium, a peripherally acting muscle relaxant","volume":"36","author":"Endo","year":"1982","journal-title":"Electroencephalogr Clin Neurophysiol Suppl"},{"key":"R17-22-20260203","doi-asserted-by":"crossref","first-page":"1316","DOI":"10.1086\/515454","article-title":"Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle","volume":"60","author":"Monnier","year":"1997","journal-title":"Am J Hum Genet"},{"key":"R18-22-20260203","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1093\/bja\/86.2.283","article-title":"Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia","volume":"86","author":"Urwyler","year":"2001","journal-title":"Br J Anaesth"},{"key":"R19-22-20260203","doi-asserted-by":"crossref","first-page":"1144","DOI":"10.1034\/j.1399-6576.2002.460914.x","article-title":"Reproducability of an in vitro contracture test results in patients tested for malignant hyperthermia susceptibility","volume":"46","author":"Islander","year":"2002","journal-title":"Acta Anaesthesiol Scand"}],"container-title":["Journal of Anaesthesiology Clinical 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