遗传性癫痫的特发性和症状形式

Q4 Medicine
A. Malov
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引用次数: 0

摘要

根据国际抗癫痫联盟2017年提出的癫痫新分类,建议特发性癫痫指的是遗传性癫痫,建议认为“特发性”一词已经过时。与此相关,出现了一种趋势,即以前称为“特发性”的癫痫形式为遗传性癫痫。然而,特发性癫痫只是遗传性癫痫的一部分。由该病因引起的其他组是单基因癫痫(例如,Dravet综合征)以及由其他遗传决定的综合征(例如,生物素酶缺乏或神经元类蜡质脂褐质病)引起的症状性癫痫。遗传癫痫的三组之间的区别是重要的,不仅因为相关病因和病程的差异,而且因为某些单基因形式的特定治疗可能是可能的。在这里,主要的标准区分这类癫痫组提出。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Idiopathic and symptomatic forms of genetic epilepsy
According to the new classification of the epilepsies proposed in 2017 by The International League Against Epilepsy, idiopathic epilepsies  are recommended to refer  to genetic epilepsy,  suggesting to consider  the term “idiopathic” as outdated. In connection with this, a tendency arose to refer forms of epilepsy previously called “idiopathic” as genetic epilepsy. However, idiopathic  epilepsy  constitutes  just a part among  genetic epilepsies. The other  groups resulting from  this etiology are monogenic  epilepsies  (e.g., Dravet syndrome)  as  well as  symptomatic  epilepsies  due to  other  genetically  determined syndromes (e.g., biotinidase deficiency or neuronal ceroid lipofuscinosis). The distinction between the three groups comprising genetic epilepsy is important not only due to difference in related etiology and course, but also because specific treatment in some monogenic forms might be possible. Here, the major  criteria for distinguishing between such epilepsy groups are presented.
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来源期刊
Epilepsy and Paroxysmal Conditions
Epilepsy and Paroxysmal Conditions Medicine-Neurology (clinical)
CiteScore
0.90
自引率
0.00%
发文量
31
审稿时长
8 weeks
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