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Items: 1 to 20 of 129

1.

Altered fast and slow inactivation of the N440K Nav1.4 mutant in a periodic paralysis syndrome.

Lossin C, Nam TS, Shahangian S, Rogawski MA, Choi SY, Kim MK, Sunwoo IN.

Neurology. 2012 Sep 4;79(10):1033-40. doi: 10.1212/WNL.0b013e3182684683. Epub 2012 Aug 22.

PMID:
22914841
2.

Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia.

Webb J, Cannon SC.

Neurology. 2008 Mar 4;70(10):755-61. Epub 2007 Sep 26.

3.

Voltage-sensor movements describe slow inactivation of voltage-gated sodium channels II: a periodic paralysis mutation in Na(V)1.4 (L689I).

Silva JR, Goldstein SA.

J Gen Physiol. 2013 Mar;141(3):323-34. doi: 10.1085/jgp.201210910. Epub 2013 Feb 11.

4.

New mutation of the Na channel in the severe form of potassium-aggravated myotonia.

Kubota T, Kinoshita M, Sasaki R, Aoike F, Takahashi MP, Sakoda S, Hirose K.

Muscle Nerve. 2009 May;39(5):666-73. doi: 10.1002/mus.21155.

PMID:
19347921
5.

Gating of myotonic Na channel mutants defines the response to mexiletine and a potent derivative.

Desaphy JF, De Luca A, Tortorella P, De Vito D, George AL Jr, Conte Camerino D.

Neurology. 2001 Nov 27;57(10):1849-57.

PMID:
11723275
6.

Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans.

Bouhours M, Sternberg D, Davoine CS, Ferrer X, Willer JC, Fontaine B, Tabti N.

J Physiol. 2004 Feb 1;554(Pt 3):635-47. Epub 2003 Nov 14.

7.

Sodium channelopathies of skeletal muscle result from gain or loss of function.

Jurkat-Rott K, Holzherr B, Fauler M, Lehmann-Horn F.

Pflugers Arch. 2010 Jul;460(2):239-48. doi: 10.1007/s00424-010-0814-4. Epub 2010 Mar 17. Review.

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9.

Different effects of mexiletine on two mutant sodium channels causing paramyotonia congenita and hyperkalemic periodic paralysis.

Weckbecker K, Würz A, Mohammadi B, Mansuroglu T, George AL Jr, Lerche H, Dengler R, Lehmann-Horn F, Mitrovic N.

Neuromuscul Disord. 2000 Jan;10(1):31-9.

PMID:
10677861
10.

A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation.

Bouhours M, Luce S, Sternberg D, Willer JC, Fontaine B, Tabti N.

J Physiol. 2005 Jun 1;565(Pt 2):415-27. Epub 2005 Mar 24.

11.

Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotonia.

Francis DG, Rybalchenko V, Struyk A, Cannon SC.

Neurology. 2011 May 10;76(19):1635-41. doi: 10.1212/WNL.0b013e318219fb57. Epub 2011 Apr 13.

12.

Mechanisms of cold sensitivity of paramyotonia congenita mutation R1448H and overlap syndrome mutation M1360V.

Mohammadi B, Mitrovic N, Lehmann-Horn F, Dengler R, Bufler J.

J Physiol. 2003 Mar 15;547(Pt 3):691-8. Epub 2003 Jan 24.

13.

Divalent cation-responsive myotonia and muscle paralysis in skeletal muscle sodium channelopathy.

Mankodi A, Grunseich C, Skov M, Cook L, Aue G, Purev E, Bakar D, Lehky T, Jurkat-Rott K, Pedersen TH, Childs RW.

Neuromuscul Disord. 2015 Nov;25(11):908-12. doi: 10.1016/j.nmd.2015.08.007. Epub 2015 Aug 20.

PMID:
26494408
14.

Mechanisms of a human skeletal myotonia produced by mutation in the C-terminus of NaV1.4: is Ca2+ regulation defective?

Biswas S, DiSilvestre DA, Dong P, Tomaselli GF.

PLoS One. 2013 Dec 6;8(12):e81063. doi: 10.1371/journal.pone.0081063. eCollection 2013.

15.

Contractile abnormalities of mouse muscles expressing hyperkalemic periodic paralysis mutant NaV1.4 channels do not correlate with Na+ influx or channel content.

Lucas B, Ammar T, Khogali S, DeJong D, Barbalinardo M, Nishi C, Hayward LJ, Renaud JM.

Physiol Genomics. 2014 Jun 1;46(11):385-97. doi: 10.1152/physiolgenomics.00166.2013. Epub 2014 Apr 8.

16.

Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome.

Arnold WD, Feldman DH, Ramirez S, He L, Kassar D, Quick A, Klassen TL, Lara M, Nguyen J, Kissel JT, Lossin C, Maselli RA.

Ann Neurol. 2015 May;77(5):840-50. doi: 10.1002/ana.24389. Epub 2015 Mar 27.

17.

Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5.

Bendahhou S, Cummins TR, Kula RW, Fu YH, Ptácek LJ.

Neurology. 2002 Apr 23;58(8):1266-72.

PMID:
11971097
18.

A C-terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivation.

Wu FF, Gordon E, Hoffman EP, Cannon SC.

J Physiol. 2005 Jun 1;565(Pt 2):371-80. Epub 2005 Mar 17.

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20.

Prevalence study of genetically defined skeletal muscle channelopathies in England.

Horga A, Raja Rayan DL, Matthews E, Sud R, Fialho D, Durran SC, Burge JA, Portaro S, Davis MB, Haworth A, Hanna MG.

Neurology. 2013 Apr 16;80(16):1472-5. doi: 10.1212/WNL.0b013e31828cf8d0. Epub 2013 Mar 20.

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