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paralysis","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002486","is_excluded":true,"label":"Myotonia","onset_id":null,"reference":"ORPHA:681","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"f850d24db9b66aa2955758a3eb1d185e96ecde814f2ea83082e7ee6900592aa8","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:170400","disease_name":"Hypokalemic periodic paralysis, type 1","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002900","is_excluded":false,"label":"Hypokalemia","onset_id":null,"reference":"PMID:18835861","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/hypokalemic-periodic-paralysis\">Hypokalemic periodic paralysis</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the CACNA1S or SCN4A gene can cause hypokalemic periodic paralysis. These genes provide instructions for making proteins that play essential roles in muscles used for movement (skeletal muscles). For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of certain positively charged atoms (ions) into muscle cells. The CACNA1S and SCN4A proteins form channels that control the flow of these ions. The channel formed by the CACNA1S protein transports calcium ions into cells, while the channel formed by the SCN4A protein transports sodium ions.</p><p>Mutations in the CACNA1S or SCN4A gene alter the usual structure and function of calcium or sodium channels. The altered channels are &quot;leaky,&quot; allowing ions to flow slowly but continually into muscle cells, which reduces the ability of skeletal muscles to contract. Because muscle contraction is needed for movement, a disruption in normal ion transport leads to episodes of severe muscle weakness or paralysis.</p><p>A small percentage of people with the characteristic features of hypokalemic periodic paralysis do not have identified mutations in the CACNA1S or SCN4A gene. In these cases, the cause of the condition is unknown.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/hypokalemic-periodic-paralysis/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Hypokalemic periodic paralysis?"},{"bodyHtml":"<p>People with hypokalemic periodic paralysis typically have reduced levels of potassium in their blood (hypokalemia) during episodes of muscle weakness. Researchers are investigating how low potassium levels may be related to the muscle abnormalities in this condition.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/hypokalemic-periodic-paralysis\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"hypokalemic-periodic-paralysis","sourceDocuments":[{"name":"Hypokalemic periodic paralysis","reviewed":"2007-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:22.156303+00:00","label":"Causes","pageSha256":"99acbc1cfee39e509c926aa4997ec514138c1e4d0cee38eba88fb0d162b36dea","sourceUrl":"https://medlineplus.gov/genetics/condition/hypokalemic-periodic-paralysis/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/hypokalemic-periodic-paralysis"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Hypokalemic periodic paralysis"},"schemaVersion":1}