| H00746 | |
| H number | H00746 |
| Name | Hypokalemic periodic paralysis |
| Description | Hypokalemic periodic paralysis (HOKPP) is a member of periodic paralyses, an autosomal dominant genetic disorders caused by mutations in the sodium and calcium channel genes in skeletal muscle. In general, HOKPP is characterized by reversible attacks of muscle weakness concomitant with decreased blood potassium concentrations. HypoPP is associated with point mutations in both CACNA1S (HOKPP1) and SCN4A (HOKPP2). |
| Category | Nervous system disease; Musculoskeletal disease |
| Network | - |
| Gene | (HOKPP1) CACNA1S [HSA:779] [KO:K04857] (HOKPP2) SCN4A [HSA:6329] [KO:K04837] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Potassium chloride [DR:D02060] Dichlorphenamide [DR:D00518] |
| Comment | - |
| Other DBs | ICD-11: 8C74.10 ICD-10: G72.3 MeSH: D020514 OMIM: 170400 613345 |
| Reference | PMID:20634695 AUTHORS Raja Rayan DL, Hanna MG TITLE Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis. JOURNAL Curr Opin Neurol 23:466-76 (2010) DOI:10.1097/WCO.0b013e32833cc97e PMID:19571750 AUTHORS Platt D, Griggs R TITLE Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias. JOURNAL Curr Opin Neurol 22:524-31 (2009) DOI:10.1097/WCO.0b013e32832efa8f PMID:8004673 (HOKPP1) AUTHORS Ptacek LJ, Tawil R, Griggs RC, Engel AG, Layzer RB, Kwiecinski H, McManis PG, Santiago L, Moore M, Fouad G, et al. TITLE Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. JOURNAL Cell 77:863-8 (1994) DOI:10.1016/0092-8674(94)90135-X PMID:10599760 (HOKPP2) AUTHORS Bulman DE, Scoggan KA, van Oene MD, Nicolle MW, Hahn AF, Tollar LL, Ebers GC TITLE A novel sodium channel mutation in a family with hypokalemic periodic paralysis. JOURNAL Neurology 53:1932-6 (1999) DOI:10.1212/wnl.53.9.1932 |