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Items: 1 to 20 of 99

1.

Disappearance of episodic weakness during pregnancy in hyperkalemic periodic paralysis from the SCNA4 mutation T704M.

Finsterer J.

Neurologist. 2009 Sep;15(5):289-90. doi: 10.1097/NRL.0b013e31818fc765.

PMID:
19741438
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.

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.

5.

Long-term effectiveness of acetazolamide on permanent weakness in hyperkalemic periodic paralysis.

Dejthevaporn C, Papsing C, Phakdeekitcharoen B, Jaovisidha S, Phudhichareonrat S, Witoonpanich R, Pulkes T.

Neuromuscul Disord. 2013 May;23(5):445-9. doi: 10.1016/j.nmd.2013.02.007. Epub 2013 Mar 7.

PMID:
23473731
6.

Hyperkalemic Periodic Paralysis.

Weber F, Jurkat-Rott K, Lehmann-Horn F.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2003 Jul 18 [updated 2016 Jan 28].

7.

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.

8.

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
9.

Defective slow inactivation of sodium channels contributes to familial periodic paralysis.

Hayward LJ, Sandoval GM, Cannon SC.

Neurology. 1999 Apr 22;52(7):1447-53.

PMID:
10227633
10.

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
11.
12.

Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness.

Hayward LJ, Kim JS, Lee MY, Zhou H, Kim JW, Misra K, Salajegheh M, Wu FF, Matsuda C, Reid V, Cros D, Hoffman EP, Renaud JM, Cannon SC, Brown RH Jr.

J Clin Invest. 2008 Apr;118(4):1437-49. doi: 10.1172/JCI32638.

13.

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
14.

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.

15.

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
16.

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.

17.

[Channelopathy of voltage-gated sodium channel].

Li YJ, Ji YH.

Sheng Li Ke Xue Jin Zhan. 1999 Oct;30(4):297-302. Review. Chinese.

PMID:
12532821
18.

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
19.

Atypical arrhythmic complications in familial hypokalemic periodic paralysis.

Maffè S, Signorotti F, Perucca A, Bielli M, Hladnik U, Ragazzoni E, Maduli E, Paffoni P, Dellavesa P, Paino AM, Zenone F, Parravicini U, Pardo NF, Cucchi L, Zanetta M.

J Cardiovasc Med (Hagerstown). 2009 Jan;10(1):68-71.

PMID:
19708131
20.

A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodes.

Yoshinaga H, Sakoda S, Good JM, Takahashi MP, Kubota T, Arikawa-Hirasawa E, Nakata T, Ohno K, Kitamura T, Kobayashi K, Ohtsuka Y.

J Neurol Sci. 2012 Apr 15;315(1-2):15-9. doi: 10.1016/j.jns.2011.12.015. Epub 2012 Jan 16.

PMID:
22257501

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