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Items: 1 to 20 of 117

1.

Correlating phenotype and genotype in the periodic paralyses.

Miller TM, Dias da Silva MR, Miller HA, Kwiecinski H, Mendell JR, Tawil R, McManis P, Griggs RC, Angelini C, Servidei S, Petajan J, Dalakas MC, Ranum LP, Fu YH, Ptácek LJ.

Neurology. 2004 Nov 9;63(9):1647-55.

PMID:
15534250
2.

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.

3.

Genotype and phenotype analysis of patients with sporadic periodic paralysis.

Sung CC, Cheng CJ, Lo YF, Lin MS, Yang SS, Hsu YC, Lin SH.

Am J Med Sci. 2012 Apr;343(4):281-5. doi: 10.1097/MAJ.0b013e31822b430c.

PMID:
21841462
4.

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.

5.

Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations.

Plassart E, Reboul J, Rime CS, Recan D, Millasseau P, Eymard B, Pelletier J, Thomas C, Chapon F, Desnuelle C, et al.

Eur J Hum Genet. 1994;2(2):110-24.

PMID:
8044656
6.

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.

7.

Primary periodic paralyses.

Finsterer J.

Acta Neurol Scand. 2008 Mar;117(3):145-58. Epub 2007 Nov 20. Review.

PMID:
18031562
8.

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.

Matthews E, Labrum R, Sweeney MG, Sud R, Haworth A, Chinnery PF, Meola G, Schorge S, Kullmann DM, Davis MB, Hanna MG.

Neurology. 2009 May 5;72(18):1544-7. doi: 10.1212/01.wnl.0000342387.65477.46. Epub 2008 Dec 31.

9.

Manifestation, management and molecular analysis of candidate genes in two rare cases of thyrotoxic hypokalemic periodic paralysis.

Schalin-Jantti C, Laine T, Valli-Jaakola K, Lonnqvist T, Kontula K, Valimaki MJ.

Horm Res. 2005;63(3):139-44. Epub 2005 Mar 24.

PMID:
15795511
10.

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
11.

Paralysis periodica paramyotonica caused by SCN4A Arg1448Cys mutation.

Hsu WC, Huang YC, Wang CW, Hsueh CH, Lai LP, Yeh JH.

J Formos Med Assoc. 2006 Jun;105(6):503-7.

12.

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
13.

Novel insights into the pathomechanisms of skeletal muscle channelopathies.

Burge JA, Hanna MG.

Curr Neurol Neurosci Rep. 2012 Feb;12(1):62-9. doi: 10.1007/s11910-011-0238-3. Review.

PMID:
22083238
14.

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.

15.

Muscle channelopathies and electrophysiological approach.

Cherian A, Baheti NN, Kuruvilla A.

Ann Indian Acad Neurol. 2008 Jan;11(1):20-7. doi: 10.4103/0972-2327.40221.

16.

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.

17.

What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.

Matthews E, Tan SV, Fialho D, Sweeney MG, Sud R, Haworth A, Stanley E, Cea G, Davis MB, Hanna MG.

Neurology. 2008 Jan 1;70(1):50-3. doi: 10.1212/01.wnl.0000287069.21162.94.

PMID:
18166706
18.

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.

19.

Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis.

Ptáĉek LJ, Tawil R, Griggs RC, Meola G, McManis P, Barohn RJ, Mendell JR, Harris C, Spitzer R, Santiago F, et al.

Neurology. 1994 Aug;44(8):1500-3.

PMID:
8058156
20.

Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.

Sternberg D, Maisonobe T, Jurkat-Rott K, Nicole S, Launay E, Chauveau D, Tabti N, Lehmann-Horn F, Hainque B, Fontaine B.

Brain. 2001 Jun;124(Pt 6):1091-9.

PMID:
11353725

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