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Hyperkalemic Periodic Paralysis; HYPP

Disease ID:457
Name:Hyperkalemic Periodic Paralysis; HYPP
Associated with:1 target
Database Links
Disease Ontology: DOID:14451
OMIM: 170500
Orphanet: ORPHA682


References:  2-4
Mutations:  Nav1.4 is associated with 11 mutation. Click here for details


No ligand related data available for Hyperkalemic Periodic Paralysis; HYPP


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1. Bendahhou S, Cummins TR, Kula RW, Fu YH, Ptácek LJ. (2002) Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5. Neurology, 58 (8): 1266-72. [PMID:11971097]

2. Cannon SC. (2002) An expanding view for the molecular basis of familial periodic paralysis. Neuromuscul Disord, 12 (6): 533-43. [PMID:12117476]

3. George AL. (2005) Inherited disorders of voltage-gated sodium channels. J Clin Invest, 115 (8): 1990-9. [PMID:16075039]

4. Lehmann-Horn F, Jurkat-Rott K. (1999) Voltage-gated ion channels and hereditary disease. Physiol Rev, 79 (4): 1317-72. [PMID:10508236]

5. Miller TM, Dias da Silva MR, Miller HA, Kwiecinski H, Mendell JR, Tawil R, McManis P, Griggs RC, Angelini C, Servidei S, Petajan J, Dalakas MC, Ranum LP, Fu YH, Ptácek LJ. (2004) Correlating phenotype and genotype in the periodic paralyses. Neurology, 63 (9): 1647-55. [PMID:15534250]

6. Ptácek LJ, George Jr AL, Griggs RC, Tawil R, Kallen RG, Barchi RL, Robertson M, Leppert MF. (1991) Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell, 67 (5): 1021-7. [PMID:1659948]

7. Rojas CV, Wang JZ, Schwartz LS, Hoffman EP, Powell BR, Brown Jr RH. (1991) A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis. Nature, 354 (6352): 387-9. [PMID:1659668]

8. Wagner S, Lerche H, Mitrovic N, Heine R, George AL, Lehmann-Horn F. (1997) A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity. Neurology, 49 (4): 1018-25. [PMID:9339683]