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Normokalemic periodic paralysis

Disease ID:700
Name:Normokalemic periodic paralysis
Associated with:2 targets
Database Links
OMIM: 170600
Orphanet: ORPHA680


Comments:  Normokalaemic periodic paralysis and recurrent cramping, oedema and neuronal compression with additional progressive myopathy
Mutations:  Cav1.1 is associated with 1 mutation. Click here for details
References:  2
Mutations:  Nav1.4 is associated with 1 mutation. Click here for details


No ligand related data available for Normokalemic periodic paralysis


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1. Fan C, Lehmann-Horn F, Weber MA, Bednarz M, Groome JR, Jonsson MK, Jurkat-Rott K. (2013) Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Cav1.1 mutation. Brain, 136 (Pt 12): 3775-86. [PMID:24240197]

2. Vicart S, Sternberg D, Fournier E, Ochsner F, Laforet P, Kuntzer T, Eymard B, Hainque B, Fontaine B. (2004) New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. Neurology, 63 (11): 2120-7. [PMID:15596759]