| H00215 | |
| H number | H00215 |
| Name | Periodic paralysis |
| Description | The periodic paralyses are characterized by episodic muscle weakness often related to potassium levels. They include hyperkalaemic periodic paralysis (HyperPP), hypokalaemic periodic paralysis (HypoPP), and Andersen-Tawil syndrome (ATS) caused by mutations in genes encoding for subunits of channel proteins of the skeletal muscle membrane. |
| Category | Nervous system disease; Musculoskeletal disease |
| Network | nt06528(H00215) Calcium signaling |
| Gene | (HYPP HOKPP2) SCN4A [HSA:6329] [KO:K04837] (HOKPP1) CACNA1S [HSA:779] [KO:K04857] (ATS) KCNJ2 [HSA:3759] [KO:K04996] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Dichlorphenamide [DR:D00518] |
| Comment | - |
| Other DBs | ICD-11: 8C74.1 ICD-10: G72.3 MeSH: D020513 D020514 D050030 OMIM: 170500 170400 170390 |
| Reference | PMID:18254068 AUTHORS Sansone V, Meola G, Links TP, Panzeri M, Rose MR TITLE Treatment for periodic paralysis. JOURNAL Cochrane Database Syst Rev CD005045 (2008) DOI:10.1002/14651858.CD005045.pub2 PMID:18031562 AUTHORS Finsterer J TITLE Primary periodic paralyses. JOURNAL Acta Neurol Scand 117:145-58 (2008) DOI:10.1111/j.1600-0404.2007.00963.x PMID:16195244 AUTHORS Venance SL, Cannon SC, Fialho D, Fontaine B, Hanna MG, Ptacek LJ, Tristani-Firouzi M, Tawil R, Griggs RC TITLE The primary periodic paralyses: diagnosis, pathogenesis and treatment. JOURNAL Brain 129:8-17 (2006) DOI:10.1093/brain/awh639 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:1659948 (HYPP) AUTHORS Ptacek LJ, George AL Jr, Griggs RC, Tawil R, Kallen RG, Barchi RL, Robertson M, Leppert MF TITLE Identification of a mutation in the gene causing hyperkalemic periodic paralysis. JOURNAL Cell 67:1021-7 (1991) DOI:10.1016/0092-8674(91)90374-8 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 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:11371347 (ATS) AUTHORS Plaster NM, Tawil R, Tristani-Firouzi M, Canun S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL Jr, Fish FA, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony SH, Wolfe G, Fu YH, Ptacek LJ TITLE Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. JOURNAL Cell 105:511-9 (2001) DOI:10.1016/s0092-8674(01)00342-7 |