Suppr超能文献

[交替性偏瘫伴癫痫]

[Alternating hemiplegia with epilepsy].

作者信息

Chebanenko N V, Zykov V P, Komarova I B, Vergizova A A, Egozheva A A

机构信息

Russian Medical Academy of Continuous Professional Education, Moscow, Russia.

出版信息

Zh Nevrol Psikhiatr Im S S Korsakova. 2021;121(3):121-126. doi: 10.17116/jnevro2021121031121.

Abstract

A clinical case of a genetically confirmed diagnosis of alternating hemiplegia associated with epilepsy is presented. The combination of two types of seizures in a child made it difficult to make a diagnosis. The result of video-EEG monitoring made it possible to understand that a child showed both epileptic seizures and non-epileptic seizures simultaneously with different periodicities. The mutation in the ATP1A3 gene was verified with genome-wide sequencing and targeted therapy was prescribed in a timely manner. As a result, both types of seizures stopped after treatment.

摘要

本文介绍了一例经基因确诊的交替性偏瘫伴癫痫的临床病例。患儿出现两种类型的发作,这使得诊断变得困难。视频脑电图监测结果表明,患儿同时出现了癫痫发作和非癫痫发作,且发作周期不同。通过全基因组测序验证了ATP1A3基因突变,并及时给予了靶向治疗。结果,治疗后两种类型的发作均停止。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验