与SCN4A相关的低钾性周期性麻痹值得试用乙酰唑胺。 - Suppr

SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide.

作者信息

Venance S L, Jurkat-Rott K, Lehmann-Horn F, Tawil R

机构信息

Neuromuscular Disease Center, Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642-8673, USA.

出版信息

Neurology. 2004 Nov 23;63(10):1977. doi: 10.1212/01.wnl.0000143068.99794.5b.

DOI:10.1212/01.wnl.0000143068.99794.5b

PMID:15557532

Abstract

摘要

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SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide.

Neurology. 2004 Nov 23;63(10):1977. doi: 10.1212/01.wnl.0000143068.99794.5b.

[From gene to diseases; hypokalemic periodic paralysis].

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

Neurology. 2004 Dec 14;63(11):2120-7. doi: 10.1212/01.wnl.0000145768.09934.ec.

Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis.

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Prolonged attacks of weakness with hypokalemia in SCN4A-related paramyotonia congenita.

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Neurology. 2001 Oct 9;57(7):1323-5. doi: 10.1212/wnl.57.7.1323.

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

Brain. 2001 Jun;124(Pt 6):1091-9. doi: 10.1093/brain/124.6.1091.

Cold induces shifts of voltage dependence in mutant SCN4A, causing hypokalemic periodic paralysis.

Neurology. 2003 Oct 14;61(7):914-8. doi: 10.1212/01.wnl.0000086820.54065.a0.

The R900S mutation in CACNA1S associated with hypokalemic periodic paralysis.

Neuromuscul Disord. 2015 Dec;25(12):955-8. doi: 10.1016/j.nmd.2015.09.006. Epub 2015 Sep 9.

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Treatment and management of neuromuscular channelopathies.

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Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations.

Korean J Pediatr. 2011 Nov;54(11):473-6. doi: 10.3345/kjp.2011.54.11.473. Epub 2011 Nov 30.

Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype.

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Practical aspects in the management of hypokalemic periodic paralysis.

J Transl Med. 2008 Apr 21;6:18. doi: 10.1186/1479-5876-6-18.

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

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SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide.

作者信息

Venance S L, Jurkat-Rott K, Lehmann-Horn F, Tawil R

机构信息

Neuromuscular Disease Center, Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642-8673, USA.

出版信息

Neurology. 2004 Nov 23;63(10):1977. doi: 10.1212/01.wnl.0000143068.99794.5b.

DOI:10.1212/01.wnl.0000143068.99794.5b

PMID:15557532

Abstract

摘要

相似文献

SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide.

Neurology. 2004 Nov 23;63(10):1977. doi: 10.1212/01.wnl.0000143068.99794.5b.

[From gene to diseases; hypokalemic periodic paralysis].

Ned Tijdschr Geneeskd. 2004 May 22;148(21):1035-8.

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

Neurology. 2004 Dec 14;63(11):2120-7. doi: 10.1212/01.wnl.0000145768.09934.ec.

Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis.

Ann Neurol. 2001 Sep;50(3):417-20. doi: 10.1002/ana.1144.

Prolonged attacks of weakness with hypokalemia in SCN4A-related paramyotonia congenita.

Muscle Nerve. 2018 Oct;58(4):E27-E28. doi: 10.1002/mus.26190. Epub 2018 Sep 3.

Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype.

Neurology. 2011 Nov 29;77(22):1960-4. doi: 10.1212/WNL.0b013e31823a0cb6. Epub 2011 Nov 16.

Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK.

Neurology. 2001 Oct 9;57(7):1323-5. doi: 10.1212/wnl.57.7.1323.

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

Brain. 2001 Jun;124(Pt 6):1091-9. doi: 10.1093/brain/124.6.1091.

Cold induces shifts of voltage dependence in mutant SCN4A, causing hypokalemic periodic paralysis.

Neurology. 2003 Oct 14;61(7):914-8. doi: 10.1212/01.wnl.0000086820.54065.a0.

The R900S mutation in CACNA1S associated with hypokalemic periodic paralysis.

Neuromuscul Disord. 2015 Dec;25(12):955-8. doi: 10.1016/j.nmd.2015.09.006. Epub 2015 Sep 9.

引用本文的文献

Cannabidiol inhibits the skeletal muscle Nav1.4 by blocking its pore and by altering membrane elasticity.

J Gen Physiol. 2021 May 3;153(5). doi: 10.1085/jgp.202012701.

Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.

J Neuromuscul Dis. 2021;8(3):357-381. doi: 10.3233/JND-200582.

SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.

Hum Mol Genet. 2015 Dec 15;24(24):7111-20. doi: 10.1093/hmg/ddv410. Epub 2015 Oct 1.

Treatment and management of neuromuscular channelopathies.

Curr Treat Options Neurol. 2014 Oct;16(10):313. doi: 10.1007/s11940-014-0313-6.

Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations.

Korean J Pediatr. 2011 Nov;54(11):473-6. doi: 10.3345/kjp.2011.54.11.473. Epub 2011 Nov 30.

Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype.

Neurology. 2011 Nov 29;77(22):1960-4. doi: 10.1212/WNL.0b013e31823a0cb6. Epub 2011 Nov 16.

Skeletal muscle na channel disorders.

Front Pharmacol. 2011 Oct 14;2:63. doi: 10.3389/fphar.2011.00063. eCollection 2011.

Practical aspects in the management of hypokalemic periodic paralysis.

J Transl Med. 2008 Apr 21;6:18. doi: 10.1186/1479-5876-6-18.

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

J Korean Med Sci. 2007 Dec;22(6):946-51. doi: 10.3346/jkms.2007.22.6.946.

Hypokalemic periodic paralysis: a model for a clinical and research approach to a rare disorder.

Neurotherapeutics. 2007 Apr;4(2):225-32. doi: 10.1016/j.nurt.2007.01.002.

SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide.

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SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide.

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