A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A.
作者信息
Rajakulendran S, Tan S V, Matthews E, Tomlinson S E, Labrum R, Sud R, Kullmann D M, Schorge S, Hanna M G
机构信息
Medical Research Council Centre for Neuromuscular Disease, Queen Square, London, WC1N 3BG, UK.
出版信息
Neurology. 2009 Sep 22;73(12):993-5. doi: 10.1212/WNL.0b013e3181b87959.
Abstract
摘要
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本文引用的文献
1
What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.英国的僵人综合征是由什么引起的？揭示常见和新的SCN4A突变。
Neurology. 2008 Jan 1;70(1):50-3. doi: 10.1212/01.wnl.0000287069.21162.94.
2
Masking epilepsy by combining two epilepsy genes.通过组合两个癫痫基因来掩盖癫痫
Nat Neurosci. 2007 Dec;10(12):1554-8. doi: 10.1038/nn1999. Epub 2007 Nov 4.
3
Episodic ataxia type 1: a neuronal potassium channelopathy.1型发作性共济失调：一种神经元钾通道病。
Neurotherapeutics. 2007 Apr;4(2):258-66. doi: 10.1016/j.nurt.2007.01.010.
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Genetic neurological channelopathies.遗传性神经通道病
Nat Clin Pract Neurol. 2006 May;2(5):252-63. doi: 10.1038/ncpneuro0178.
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Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.发作性共济失调/肌束震颤综合征与人类钾通道基因KCNA1中的点突变有关。
Nat Genet. 1994 Oct;8(2):136-40. doi: 10.1038/ng1094-136.
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Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.成人骨骼肌钠通道S4片段中的突变导致先天性副肌强直。
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