Myotonia, Potassium-Aggravated
GtoPdb Disease Summaries
This section gives an overview of the disease, and where available shows the following:
- Synonyms: Shows known synonyms for the disease.
- Description: Gives a basic description/definition of the disease.
- Database Link: External links to the same disease at the Disease Ontology, OMIM or Orphanet sites.
- Immunopharmacology comments: General comments about the target's role in immunopharmacology, provided by GtoImmuPdb curators.
- Associated with: Counts are displayed for the total targets the disease is associated with in GtoPdb. The counts of targets and ligands of immunological relevance associated to the disease are also shown.
More information can be found in the help pages.
✖| Disease ID: | 770 | |
| Name: | Myotonia, Potassium-Aggravated | |
| Associated with: | 1 target | |
| Synonyms |
| Acetazolamide-responsive myotonia | Myotonia fluctuans | Myotonia permanens |
| Database Links |
|
OMIM:
608390 Orphanet: ORPHA99735, ORPHA99736, ORPHA99734 |
Targets
GtoPdb Disease Summaries - Targets
Click on the target name to link to its detailed view page
Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖| Nav1.4 | |
| References: | 1-2,6 |
| Mutations: | Nav1.4 is associated with 11 mutation. Click here for details  |
Ligands
GtoPdb Disease Summaries - Ligands
Click ligand name to view ligand summary page
- Approved: If the ligand is an approved drug this is indicated, along with approval bodies.
- Immuno: Immuno icon indicates the ligand is immuno-relevant
Click the arrow in the final column to expand comments
- Immuno Disease Comments: Curatorial comments specifically added as part of GtoImmuPdb. They give more information on the association between the ligand and disease in the context of immunopharmacology.
- Clinical Use: General clinical comments relating to the ligand and may not necessarily be specific to the disease in question. With hyperlink to more details on the ligand summary pages.
- Bioactivty Comments: Curatorial comments specifically about the compounds biological activity - with hyperlink to more details on the ligand summary pages.
More information can be found in the help pages.
✖No ligand related data available for Myotonia, Potassium-Aggravated
References
1. Cannon SC. (2002) An expanding view for the molecular basis of familial periodic paralysis. Neuromuscul Disord, 12 (6): 533-43. [PMID:12117476]
2. George AL. (2005) Inherited disorders of voltage-gated sodium channels. J Clin Invest, 115 (8): 1990-9. [PMID:16075039]
3. Groome JR, Fujimoto E, Ruben PC. (2005) K-aggravated myotonia mutations at residue G1306 differentially alter deactivation gating of human skeletal muscle sodium channels. Cell Mol Neurobiol, 25 (7): 1075-92. [PMID:16392038]
4. Heine R, Pika U, Lehmann-Horn F. (1993) A novel SCN4A mutation causing myotonia aggravated by cold and potassium. Hum Mol Genet, 2 (9): 1349-53. [PMID:8242056]
5. Lee SC, Kim HS, Park YE, Choi YC, Park KH, Kim DS. (2009) Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy. J Clin Neurol, 5 (4): 186-91. [PMID:20076800]
6. Lehmann-Horn F, Jurkat-Rott K. (1999) Voltage-gated ion channels and hereditary disease. Physiol Rev, 79 (4): 1317-72. [PMID:10508236]
7. Lerche H, Heine R, Pika U, George AL, Mitrovic N, Browatzki M, Weiss T, Rivet-Bastide M, Franke C, Lomonaco M. (1993) Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. J Physiol (Lond.), 470: 13-22. [PMID:8308722]
8. McClatchey AI, McKenna-Yasek D, Cros D, Worthen HG, Kuncl RW, DeSilva SM, Cornblath DR, Gusella JF, Brown RH. (1992) Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. Nat Genet, 2 (2): 148-52. [PMID:1338909]
9. McClatchey AI, Van den Bergh P, Pericak-Vance MA, Raskind W, Verellen C, McKenna-Yasek D, Rao K, Haines JL, Bird T, Brown Jr RH et al.. (1992) Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell, 68 (4): 769-74. [PMID:1310898]
10. Mitrović N, George AL, Lerche H, Wagner S, Fahlke C, Lehmann-Horn F. (1995) Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel. J Physiol (Lond.), 487 ( Pt 1): 107-14. [PMID:7473241]
11. Petitprez S, Tiab L, Chen L, Kappeler L, Rösler KM, Schorderet D, Abriel H, Burgunder JM. (2008) A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia. Neurology, 71 (21): 1669-75. [PMID:19015483]
12. Ptáĉek LJ, Tawil R, Griggs RC, Meola G, McManis P, Barohn RJ, Mendell JR, Harris C, Spitzer R, Santiago F et al.. (1994) Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology, 44 (8): 1500-3. [PMID:8058156]
13. Ricker K, Moxley RT, Heine R, Lehmann-Horn F. (1994) Myotonia fluctuans. A third type of muscle sodium channel disease. Arch Neurol, 51 (11): 1095-102. [PMID:7980103]
14. Rosenbohm A, Rüdel R, Fahlke C. (1999) Regulation of the human skeletal muscle chloride channel hClC-1 by protein kinase C. J Physiol (Lond.), 514 ( Pt 3): 677-85. [PMID:9882739]
15. Stunnenberg BC, Ginjaar HB, Trip J, Faber CG, van Engelen BG, Drost G. (2010) Isolated eyelid closure myotonia in two families with sodium channel myotonia. Neurogenetics, 11 (2): 257-60. [PMID:19876661]
