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Items: 1 to 20 of 60

1.

Mutations of SCN4A gene cause different diseases: 2 case reports and literature review.

Liu XL, Huang XJ, Luan XH, Zhou HY, Wang T, Wang JY, Chen SD, Tang HD, Cao L.

Channels (Austin). 2015;9(2):82-7. doi: 10.1080/19336950.2015.1012945. Review.

2.

Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals.

Charles G, Zheng C, Lehmann-Horn F, Jurkat-Rott K, Levitt J.

J Neurol. 2013 Oct;260(10):2606-13. doi: 10.1007/s00415-013-7025-9. Epub 2013 Jul 25.

3.

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.

4.

Pathophysiological role of omega pore current in channelopathies.

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

Front Pharmacol. 2012 Jun 11;3:112. doi: 10.3389/fphar.2012.00112. eCollection 2012.

5.
6.

Na+,K+-pump stimulation improves contractility in isolated muscles of mice with hyperkalemic periodic paralysis.

Clausen T, Nielsen OB, Clausen JD, Pedersen TH, Hayward LJ.

J Gen Physiol. 2011 Jul;138(1):117-30. doi: 10.1085/jgp.201010586.

8.

The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.

Kim JB, Kim MH, Lee SJ, Kim DJ, Lee BC.

J Korean Med Sci. 2007 Dec;22(6):946-51.

9.

Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis.

Jurkat-Rott K, Lehmann-Horn F.

Neurotherapeutics. 2007 Apr;4(2):216-24. Review.

PMID:
17395131
10.

Central charged residues in DIIIS4 regulate deactivation gating in skeletal muscle sodium channels.

Groome JR, Alexander HM, Fujimoto E, Sherry M, Petty D.

Cell Mol Neurobiol. 2007 Feb;27(1):87-106. Epub 2006 Dec 7.

PMID:
17151947
11.

Muscle Na+ channelopathies: MRI detects intracellular 23Na accumulation during episodic weakness.

Weber MA, Nielles-Vallespin S, Essig M, Jurkat-Rott K, Kauczor HU, Lehmann-Horn F.

Neurology. 2006 Oct 10;67(7):1151-8. Epub 2006 Aug 23.

PMID:
16931510
12.

Anaesthetic management of labour and caesarean delivery of a patient with hyperkalaemic periodic paralysis.

Mackenzie MJ, Pickering E, Yentis SM.

Int J Obstet Anesth. 2006 Oct;15(4):329-31. Epub 2006 Jun 13.

PMID:
16774829
13.

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.

14.

Complications of anaesthesia in neuromuscular disorders.

Klingler W, Lehmann-Horn F, Jurkat-Rott K.

Neuromuscul Disord. 2005 Mar;15(3):195-206. Epub 2005 Jan 28. Review.

PMID:
15725581
15.

New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

Vicart S, Sternberg D, Fournier E, Ochsner F, Laforet P, Kuntzer T, Eymard B, Hainque B, Fontaine B.

Neurology. 2004 Dec 14;63(11):2120-7.

PMID:
15596759
16.

Cooperative effect of S4-S5 loops in domains D3 and D4 on fast inactivation of the Na+ channel.

Popa MO, Alekov AK, Bail S, Lehmann-Horn F, Lerche H.

J Physiol. 2004 Nov 15;561(Pt 1):39-51. Epub 2004 Sep 30.

17.

Electromyography guides toward subgroups of mutations in muscle channelopathies.

Fournier E, Arzel M, Sternberg D, Vicart S, Laforet P, Eymard B, Willer JC, Tabti N, Fontaine B.

Ann Neurol. 2004 Nov;56(5):650-61.

PMID:
15389891
18.

A third type of periodic paralysis, with normokalemia and favourable response to sodium chloride.

POSKANZER DC, KERR DN.

Am J Med. 1961 Sep;31:328-42. No abstract available.

PMID:
13737364
19.

Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A.

Brancati F, Valente EM, Davies NP, Sarkozy A, Sweeney MG, LoMonaco M, Pizzuti A, Hanna MG, Dallapiccola B.

J Neurol Neurosurg Psychiatry. 2003 Sep;74(9):1339-41.

20.

Impaired slow inactivation due to a polymorphism and substitutions of Ser-906 in the II-III loop of the human Nav1.4 channel.

Kuzmenkin A, Jurkat-Rott K, Lehmann-Horn F, Mitrovic N.

Pflugers Arch. 2003 Oct;447(1):71-7. Epub 2003 Jul 26.

PMID:
12898257

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