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

Targets

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

Ligands

No ligand related data available for Hyperkalemic Periodic Paralysis; HYPP

References

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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 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 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]