Which Pediatric Disorders are Associated with CACNA1S Mutations?
Mutations in the CACNA1S gene are linked to several pediatric disorders, most notably Hypokalemic Periodic Paralysis (HypoPP) and Malignant Hyperthermia Susceptibility (MHS). HypoPP is characterized by episodes of muscle weakness or paralysis, often triggered by low potassium levels. MHS is a potentially life-threatening reaction to certain anesthesia medications, leading to rapid onset of high fever and severe muscle contractions.
