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ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions.ILAE 特发性全面性癫痫综合征定义:ILAE 分类和定义委员会专题工作组的立场声明。
Epilepsia. 2022 Jun;63(6):1475-1499. doi: 10.1111/epi.17236. Epub 2022 May 3.
2
TBC1D24-related familial infantile multifocal myoclonus: Description of a new Chinese pedigree with a 20 year follow up.TBC1D24 相关性家族性婴儿期多灶性肌阵挛:20 年随访的新中国家系描述。
Epilepsy Res. 2022 May;182:106923. doi: 10.1016/j.eplepsyres.2022.106923. Epub 2022 Apr 8.
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Lance Adams syndrome: two cases report and literature review.兰斯·亚当斯综合征:两例报告及文献复习。
J Int Med Res. 2022 Feb;50(2):3000605211059933. doi: 10.1177/03000605211059933.
4
Myoclonus-Ataxia Syndromes: A Diagnostic Approach.肌阵挛-共济失调综合征:一种诊断方法
Mov Disord Clin Pract. 2020 Nov 3;8(1):9-24. doi: 10.1002/mdc3.13106. eCollection 2021 Jan.
5
Pentameric repeat expansions: cortical myoclonus or cortical tremor?五聚体重复序列扩增:皮质肌阵挛还是皮质震颤?
Brain. 2020 Oct 1;143(10):e86. doi: 10.1093/brain/awaa259.
6
Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency.肌阵挛性震颤作为腺嘌呤琥珀酸裂解酶缺乏症的首发症状。
Eur J Med Genet. 2020 Dec;63(12):104061. doi: 10.1016/j.ejmg.2020.104061. Epub 2020 Sep 3.
7
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Acta Neurol Belg. 2021 Feb;121(1):279-281. doi: 10.1007/s13760-020-01466-4. Epub 2020 Aug 26.
8
How to diagnose and classify idiopathic (genetic) generalized epilepsies.如何诊断和分类特发性(遗传)全面性癫痫。
Epileptic Disord. 2020 Aug 1;22(4):399-420. doi: 10.1684/epd.2020.1192.
9
A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients.详细描述了 17 例大样本北海南部进行性肌阵挛性癫痫患者的表型谱。
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10
Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force.遗传性肌阵挛性癫痫综合征命名:国际运动障碍协会工作组推荐。
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肌阵挛的困惑:多种表现形式、两个学科领域,需要达成共识。

The Muddle of Myoclonus: Many Guises, 2 Disciplines, Consensus Needed.

作者信息

Van Der Veen Sterre, Tijssen Marina A J, Berkovic Samuel F

机构信息

Department of Neurology (SVDV, MAJT), University of Groningen, University Medical Centre Groningen; Expertise Centre Movement Disorders Groningen (SVDV, MAJT), University Medical Centre Groningen; and Epilepsy Research Centre (SVDV, SFB), Department of Medicine, University of Melbourne, Austin Health.

出版信息

Neurol Clin Pract. 2023 Oct;13(5):e200187. doi: 10.1212/CPJ.0000000000200187. Epub 2023 Aug 31.

DOI:10.1212/CPJ.0000000000200187
PMID:37664134
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10473854/
Abstract

Myoclonus is often approached in different ways by epileptologists and movement disorder specialists, leading to confusion in the literature. Multiplicity and inconsistency over the past 2 centuries resulted in a lack of precision and ambiguity of the terminology. We show that this is a current problem in which one phenomenon has been described with many terms and vice versa. Of more importance, we discuss the conceptualization of myoclonus from perspectives of both fields and focus on the borderland that exists, especially in the spectrum of cortical and epileptic myoclonus. By giving 2 examples, we illustrate the conundrum: the spectrum of progressive myoclonus epilepsies and progressive myoclonic ataxias and "cortical tremor" observed in familial cortical myoclonic tremor with epilepsy or familial adult myoclonic epilepsy. We attempt to facilitate to bridge these subspecialties and form the base for a uniform understanding to take this issue forward toward future classifications, discussions, and scientific research.

摘要

癫痫学家和运动障碍专家对肌阵挛的研究方式往往不同,这导致了文献中的混乱。在过去的两个世纪里,其多样性和不一致性导致了术语缺乏精确性和模糊性。我们表明,这是一个当前存在的问题,即一种现象用了许多术语来描述,反之亦然。更重要的是,我们从这两个领域的角度讨论肌阵挛的概念,并关注存在的边缘地带,特别是在皮质性和癫痫性肌阵挛的范围内。通过给出两个例子,我们说明了这一难题:进行性肌阵挛癫痫和进行性肌阵挛共济失调的范围,以及在家族性皮质肌阵挛震颤伴癫痫或家族性成人肌阵挛癫痫中观察到的“皮质震颤”。我们试图促进这些亚专业之间的沟通,为统一理解奠定基础,以便在未来的分类、讨论和科学研究中推进这一问题。