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Journal Abstract Search

181 related items for PubMed ID: 20522878

  • 1. Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene.
    Hong D, Luan X, Chen B, Zheng R, Zhang W, Wang Z, Yuan Y.
    J Neurol Neurosurg Psychiatry; 2010 Jun; 81(6):703-4. PubMed ID: 20522878
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  • 4. 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. PubMed ID: 11353725
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  • 6. [Clinical and molecular genetic analysis of a family with normokalemic periodic paralysis].
    Wei CJ, Wang D, Wang S, Jiao H, Hong DJ, Pu LH, Xiong H.
    Zhonghua Er Ke Za Zhi; 2013 Jan; 51(1):47-51. PubMed ID: 23527931
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  • 7. 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. PubMed ID: 21841462
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  • 8. Exercise test on the patients with normokalaemic periodic paralysis from a Chinese family with a mutation in the SCN4A gene.
    Feng Y, Zhang Y, Liu ZL, Zhang CD.
    Chin Med J (Engl); 2008 Oct 05; 121(19):1915-9. PubMed ID: 19080124
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  • 9. Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis.
    Xiuhai G, Weiping W, Ke Z, Hongbin W, Yiling S, MaoYanling.
    Cell Mol Neurobiol; 2008 Aug 05; 28(5):653-61. PubMed ID: 18046642
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  • 10. 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.
    Eur J Hum Genet; 1994 Aug 05; 2(2):110-24. PubMed ID: 8044656
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  • 11. 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. PubMed ID: 15596759
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  • 13. An expanding view for the molecular basis of familial periodic paralysis.
    Cannon SC.
    Neuromuscul Disord; 2002 Aug 14; 12(6):533-43. PubMed ID: 12117476
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  • 15. Normokalemic periodic paralysis revisited: does it exist?
    Chinnery PF, Walls TJ, Hanna MG, Bates D, Fawcett PR.
    Ann Neurol; 2002 Aug 14; 52(2):251-2. PubMed ID: 12210802
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  • 16. Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.
    McClatchey AI, McKenna-Yasek D, Cros D, Worthen HG, Kuncl RW, DeSilva SM, Cornblath DR, Gusella JF, Brown RH.
    Nat Genet; 1992 Oct 14; 2(2):148-52. PubMed ID: 1338909
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  • 20. Identification of a Thr-to-Met mutation in the skeletal muscle sodium channel gene in hyperkalemic periodic paralysis of a Japanese family.
    Arahata K, Wang J, Feero WG, Hayakawa H, Honda K, Sugita H, Hoffman EP.
    Ann N Y Acad Sci; 1993 Dec 20; 707():342-5. PubMed ID: 9137564
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