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Hypokalemic periodic paralysis, type 2; HOKPP2

Disease ID:471
Name:Hypokalemic periodic paralysis, type 2; HOKPP2
Associated with:1 target
Hypokalemic periodic paralysis
Database Links
Disease Ontology: DOID:14452
OMIM: 613345
Orphanet: ORPHA681


References:  2,4,6
Mutations:  Nav1.4 is associated with 7 mutation. Click here for details


No ligand related data available for Hypokalemic periodic paralysis, type 2; HOKPP2


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1. Bulman DE, Scoggan KA, van Oene MD, Nicolle MW, Hahn AF, Tollar LL, Ebers GC. (1999) A novel sodium channel mutation in a family with hypokalemic periodic paralysis. Neurology, 53 (9): 1932-6. [PMID:10599760]

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

3. Carle T, Lhuillier L, Luce S, Sternberg D, Devuyst O, Fontaine B, Tabti N. (2006) Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis. Biochem Biophys Res Commun, 348 (2): 653-61. [PMID:16890191]

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

5. Jurkat-Rott K, Mitrovic N, Hang C, Kouzmekine A, Iaizzo P, Herzog J, Lerche H, Nicole S, Vale-Santos J, Chauveau D et al.. (2000) Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. Proc Natl Acad Sci USA, 97 (17): 9549-54. [PMID:10944223]

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

7. Matthews E, Labrum R, Sweeney MG, Sud R, Haworth A, Chinnery PF, Meola G, Schorge S, Kullmann DM, Davis MB et al.. (2009) Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. Neurology, 72 (18): 1544-7. [PMID:19118277]

8. Park YH, Kim JB. (2010) An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene SCN4A. Korean J Pediatr, 53 (10): 909-12. [PMID:21189962]

9. Sternberg D, Maisonobe T, Jurkat-Rott K, Nicole S, Launay E, Chauveau D, Tabti N, Lehmann-Horn F, Hainque B, Fontaine B. (2001) Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A. Brain, 124 (Pt 6): 1091-9. [PMID:11353725]