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周期性瘫痪

Periodic paralysis.

作者信息

Fialho Doreen, Griggs Robert C, Matthews Emma

机构信息

MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, United Kingdom.

Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, NY, United States.

出版信息

Handb Clin Neurol. 2018;148:505-520. doi: 10.1016/B978-0-444-64076-5.00032-6.

DOI:10.1016/B978-0-444-64076-5.00032-6
PMID:29478596
Abstract

The periodic paralyses are a group of skeletal muscle channelopathies characterizeed by intermittent attacks of muscle weakness often associated with altered serum potassium levels. The underlying genetic defects include mutations in genes encoding the skeletal muscle calcium channel Ca1.1, sodium channel Na1.4, and potassium channels K2.1, K3.4, and possibly K2.6. Our increasing knowledge of how mutant channels affect muscle excitability has resulted in better understanding of many clinical phenomena which have been known for decades and sheds light on some of the factors that trigger attacks. Insights into the pathophysiology are also leading to new therapeutic approaches.

摘要

周期性麻痹是一组骨骼肌离子通道病,其特征为肌肉无力的间歇性发作,常伴有血清钾水平改变。潜在的基因缺陷包括编码骨骼肌钙通道Ca1.1、钠通道Na1.4以及钾通道K2.1、K3.4和可能的K2.6的基因突变。我们对突变通道如何影响肌肉兴奋性的了解不断增加,这使我们能更好地理解许多已为人知数十年的临床现象,并揭示了一些引发发作的因素。对病理生理学的深入了解也正在催生新的治疗方法。

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Periodic Paralysis: A Case Series with a Literature Review.周期性麻痹:病例系列及文献综述
Case Rep Neurol. 2024 Oct 2;16(1):274-280. doi: 10.1159/000541585. eCollection 2024 Jan-Dec.
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Orphanet J Rare Dis. 2024 Apr 12;19(1):160. doi: 10.1186/s13023-024-03170-5.
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