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. CACNA1S has also been implicated in MH. We applied a targeted next generation sequencing approach to identify variants in RYR1 and CACNA1S in a cohort of unrelated patients diagnosed with MH susceptibility. We also provide the first comprehensive report of sequencing of these two genes in a cohort of survivors of exertional heat illness.
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