Hypokalemic periodic paralysis, type 1; HOKPP1

Disease ID:470
Name:Hypokalemic periodic paralysis, type 1; HOKPP1
Associated with:1 target
Synonyms
Hypokalemic periodic paralysis
Database Links
Disease Ontology: DOID:14452
OMIM: 170400
Orphanet: ORPHA681

Targets

Cav1.1
Role:  Unknown
References:  1,3,5-6,10,12
Mutations:  Cav1.1 is associated with 9 mutation. Click here for details

Ligands

No ligand related data available for Hypokalemic periodic paralysis, type 1; HOKPP1

References

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1. Caciotti A, Morrone A, Domenici R, Donati MA, Zammarchi E. (2003) Severe prognosis in a large family with hypokalemic periodic paralysis. Muscle Nerve, 27 (2): 165-9. [PMID:12548523]

2. Chabrier S, Monnier N, Lunardi J. (2008) Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene. J. Med. Genet., 45 (10): 686-8. [PMID:18835861]

3. Fouad G, Dalakas M, Servidei S, Mendell JR, Van den Bergh P, Angelini C, Alderson K, Griggs RC, Tawil R, Gregg R, Hogan K, Powers PA, Weinberg N, Malonee W, Ptácek LJ. (1997) Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis. Neuromuscul. Disord., 7 (1): 33-8. [PMID:9132138]

4. Hirano M, Kokunai Y, Nagai A, Nakamura Y, Saigoh K, Kusunoki S, Takahashi MP. (2011) A novel mutation in the calcium channel gene in a family with hypokalemic periodic paralysis. J. Neurol. Sci., 309 (1-2): 9-11. [PMID:21855088]

5. Jurkat-Rott K, Lehmann-Horn F, Elbaz A, Heine R, Gregg RG, Hogan K, Powers PA, Lapie P, Vale-Santos JE, Weissenbach J. (1994) A calcium channel mutation causing hypokalemic periodic paralysis. Hum. Mol. Genet., 3 (8): 1415-9. [PMID:7987325]

6. Jurkat-Rott K, Lerche H, Lehmann-Horn F. (2002) Skeletal muscle channelopathies. J. Neurol., 249 (11): 1493-502. [PMID:12420087]

7. Ke T, Gomez CR, Mateus HE, Castano JA, Wang QK. (2009) Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family. J. Hum. Genet., 54 (11): 660-4. [PMID:19779499]

8. Li FF, Li QQ, Tan ZX, Zhang SY, Liu J, Zhao EY, Yu GC, Zhou J, Zhang LM, Liu SL. (2012) A novel mutation in CACNA1S gene associated with hypokalemic periodic paralysis which has a gender difference in the penetrance. J. Mol. Neurosci., 46 (2): 378-83. [PMID:21845430]

9. 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]

10. Ptácek LJ, Tawil R, Griggs RC, Engel AG, Layzer RB, Kwieciński H, McManis PG, Santiago L, Moore M, Fouad G. (1994) Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell, 77 (6): 863-8. [PMID:8004673]

11. Striessnig J, Bolz HJ, Koschak A. (2010) Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels. Pflugers Arch., 460 (2): 361-74. [PMID:20213496]

12. Striessnig J, Hoda JC, Koschak A, Zaghetto F, Müllner C, Sinnegger-Brauns MJ, Wild C, Watschinger K, Trockenbacher A, Pelster G. (2004) L-type Ca2+ channels in Ca2+ channelopathies. Biochem. Biophys. Res. Commun., 322 (4): 1341-6. [PMID:15336981]