ATP1A3 交替性偏瘫

M. P. Afanasyeva, E. D. Belousova, A. A. Sharkov
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引用次数: 0

摘要

交替性偏瘫(AH)是一种罕见且研究较少的疾病。交替性偏瘫的特征是早期发作性偏瘫(从几分钟到几天不等)、异常运动和认知,并可能发展为神经系统缺陷。对遗传基础的研究发现,编码 Na+/K+-ATPase alfa-3 亚基的 ATP1A3 基因发生了突变。在研究中,基因数据被认为是最重要的预后信息。由于该病的某些症状与癫痫相似,且在神经视觉上没有偏差,因此诊断难度很大。本文试图总结世界科学经验,确定最重要的研究方向。
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ATP1A3-alternating hemiplegia
Alternating hemiplegia (AH) is a rare and little researched disease. AH is characterized with early episodes of hemiplegia (from a few minutes to a few days), abnormal movements and cognition, and probable development of neurological defi ciency. Studies of genetic basis have led to discovery of mutations in gen ATP1A3, which codes alfa-3 subunit of Na+/K+-ATPase. For research, genetic data are considered most important prognostic information. Its diagnostics is diffi cult due to similarity of some symptoms to epilepsy and absence of deviations at neuro-visualisation. This article is an attempt to generalize world scientifi c experience and to determine most important research derections.
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来源期刊
Russian Neurological Journal
Russian Neurological Journal Medicine-Neurology (clinical)
CiteScore
0.40
自引率
0.00%
发文量
49
期刊最新文献
100 years since the birth of Professor M.Ya. Berdichevsky Variability of alternating hemiplegia in children Outcomes of epilepsy surgery in patients with diffuse gliomas of the brain Specific features of actual infectious diseases in postpandemic period Immunological status of patients in the acute period of ischemic stroke
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