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Items: 1 to 20 of 92

1.

Leaky channels make weak muscles.

George AL Jr.

J Clin Invest. 2012 Dec;122(12):4333-6. doi: 10.1172/JCI66535. Epub 2012 Nov 26.

2.

A calcium channel mutant mouse model of hypokalemic periodic paralysis.

Wu F, Mi W, Hernández-Ochoa EO, Burns DK, Fu Y, Gray HF, Struyk AF, Schneider MF, Cannon SC.

J Clin Invest. 2012 Dec;122(12):4580-91. doi: 10.1172/JCI66091. Epub 2012 Nov 26.

3.

Disrupted coupling of gating charge displacement to Na+ current activation for DIIS4 mutations in hypokalemic periodic paralysis.

Mi W, Rybalchenko V, Cannon SC.

J Gen Physiol. 2014 Aug;144(2):137-45. doi: 10.1085/jgp.201411199. Epub 2014 Jul 14.

4.

A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis.

Wu F, Mi W, Burns DK, Fu Y, Gray HF, Struyk AF, Cannon SC.

J Clin Invest. 2011 Oct;121(10):4082-94. doi: 10.1172/JCI57398. Epub 2011 Sep 1.

5.

Beneficial effects of bumetanide in a CaV1.1-R528H mouse model of hypokalaemic periodic paralysis.

Wu F, Mi W, Cannon SC.

Brain. 2013 Dec;136(Pt 12):3766-74. doi: 10.1093/brain/awt280. Epub 2013 Oct 18.

6.

Gating pore currents in DIIS4 mutations of NaV1.4 associated with periodic paralysis: saturation of ion flux and implications for disease pathogenesis.

Struyk AF, Markin VS, Francis D, Cannon SC.

J Gen Physiol. 2008 Oct;132(4):447-64. doi: 10.1085/jgp.200809967.

7.

Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.

Jurkat-Rott K, Mitrovic N, Hang C, Kouzmekine A, Iaizzo P, Herzog J, Lerche H, Nicole S, Vale-Santos J, Chauveau D, Fontaine B, Lehmann-Horn F.

Proc Natl Acad Sci U S A. 2000 Aug 15;97(17):9549-54.

8.
9.

Mutations linked to familial hypokalaemic periodic paralysis in the calcium channel alpha1 subunit gene (Cav1.1) are not associated with thyrotoxic hypokalaemic periodic paralysis.

Dias da Silva MR, Cerutti JM, Tengan CH, Furuzawa GK, Vieira TC, Gabbai AA, Maciel RM.

Clin Endocrinol (Oxf). 2002 Mar;56(3):367-75.

PMID:
11940049
11.

Gating pore current in an inherited ion channelopathy.

Sokolov S, Scheuer T, Catterall WA.

Nature. 2007 Mar 1;446(7131):76-8.

PMID:
17330043
12.

Muscle channelopathies: does the predicted channel gating pore offer new treatment insights for hypokalaemic periodic paralysis?

Matthews E, Hanna MG.

J Physiol. 2010 Jun 1;588(Pt 11):1879-86. doi: 10.1113/jphysiol.2009.186627. Epub 2010 Feb 1. Review.

13.

Ion permeation and block of the gating pore in the voltage sensor of NaV1.4 channels with hypokalemic periodic paralysis mutations.

Sokolov S, Scheuer T, Catterall WA.

J Gen Physiol. 2010 Aug;136(2):225-36. doi: 10.1085/jgp.201010414.

14.

Hallmarks of the channelopathies associated with L-type calcium channels: a focus on the Timothy mutations in Ca(v)1.2 channels.

Bidaud I, Lory P.

Biochimie. 2011 Dec;93(12):2080-6. doi: 10.1016/j.biochi.2011.05.015. Epub 2011 May 31. Review.

PMID:
21664226
15.

Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels.

Striessnig J, Bolz HJ, Koschak A.

Pflugers Arch. 2010 Jul;460(2):361-74. doi: 10.1007/s00424-010-0800-x. Epub 2010 Mar 7. Review.

16.
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18.

Domain III S4 in closed-state fast inactivation: insights from a periodic paralysis mutation.

Groome JR, Jurkat-Rott K, Lehmann-Horn F.

Channels (Austin). 2014;8(5):467-71. doi: 10.4161/19336950.2014.958924.

19.

The R900S mutation in CACNA1S associated with hypokalemic periodic paralysis.

Ke Q, He F, Lu L, Yu P, Jiang Y, Weng C, Huang H, Yi X, Qi M.

Neuromuscul Disord. 2015 Dec;25(12):955-8. doi: 10.1016/j.nmd.2015.09.006. Epub 2015 Sep 9.

PMID:
26433613
20.

[From gene to diseases; hypokalemic periodic paralysis].

Links TP, Ginjaar HB, van der Hoeven JH.

Ned Tijdschr Geneeskd. 2004 May 22;148(21):1035-8. Review. Dutch.

PMID:
15185439

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