NIH R01 · 2024
Disease Pathogenesis and Modification for CaV1.1-Associated Hypokalemic Periodic Paralysis
Hypokalemic periodic paralysis (HypoPP) is a dominantly inherited disorder of skeletal muscle in which recurrent attacks of weakness are caused by intermittent failure of fiber excitability. Episodes occur in association with hypokalemia (K+ < 3 mM) and are often triggered by carbohydrate ingestion, exercise, or stress. The molecular defect in HypoPP is heterogeneous, with 60% of families having missense mutations in CACNA1S encoding the L-type Ca channel CaV1.1, and 20% have missense mutations in SCN4A encoding the voltage-gated Na+ channel NaV1.4. Management of symptoms is limited to avoiding trigger factors, optimizing serum K+ levels, or empirical use of carbonic anhydrase inhibitors…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.