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发作性神经通道病。

Episodic neurological channelopathies.

机构信息

Neuroscience Graduate Program, University of California-San Francisco, San Francisco, CA 94158, USA.

出版信息

Neuron. 2010 Oct 21;68(2):282-92. doi: 10.1016/j.neuron.2010.10.008.

Abstract

Inherited episodic neurological disorders are often due to mutations in ion channels or their interacting proteins, termed channelopathies. There are a wide variety of such disorders, from those causing paralysis, to extreme pain, to ataxia. A common theme in these is alteration of action potential properties or synaptic transmission and a resulting increased propensity of the resulting tissue to enter into or stay in an altered excitability state. Manifestations of these disorders are triggered by an array of precipitants, all of which stress the particular affected tissue in some way and aid in propelling its activity into an aberrant state. Study of these disorders has aided in the understanding of disease risk factors and elucidated the cause of clinically related sporadic disorders. The findings from study of these disorders will aid in the diagnosis and efficient targeted treatment of affected patients.

摘要

遗传性发作性神经紊乱通常是由于离子通道或其相互作用的蛋白发生突变所致,这种疾病被称为离子通道病。此类疾病有多种,从导致瘫痪到极度疼痛再到共济失调。这些疾病的一个共同特征是动作电位特性或突触传递发生改变,从而导致组织更容易进入或保持改变后的兴奋状态。这些疾病的表现由一系列诱发因素引发,所有这些因素都以某种方式对特定的受影响组织造成压力,并有助于将其活动推向异常状态。对这些疾病的研究有助于了解疾病的风险因素,并阐明与临床相关的散发性疾病的病因。对这些疾病的研究结果将有助于诊断和对受影响患者进行有效的靶向治疗。

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