Myoclonic Epilepsy of Unverricht and Lundborg in a Filipino Woman.
作者信息
Solijon Kruzette Khloe L, Magtuba Sheina B, Belonguel Noel, Saranza Gerard
机构信息
Section of Adult Neurology, Department of Internal Medicine, Chong Hua Hospital, Cebu, Philippines.
Department of Internal Medicine, Perpetual Succor Hospital, Cebu, Philippines.
出版信息
J Mov Disord. 2025 Jan;18(1):96-98. doi: 10.14802/jmd.24172. Epub 2024 Oct 7.
Abstract
摘要
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本文引用的文献
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Myoclonus: Differential diagnosis and current management.肌阵挛：鉴别诊断与当前管理。
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Unverricht-Lundborg disease (EPM1) in Finland: A nationwide population-based study.芬兰的 Unverricht-Lundborg 病（EPM1）：一项全国范围内基于人群的研究。
Neurology. 2020 Dec 8;95(23):e3117-e3123. doi: 10.1212/WNL.0000000000010911. Epub 2020 Sep 17.
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Cystatin B is essential for proliferation and interneuron migration in individuals with EPM1 epilepsy.胱抑素 B 对于 EPM1 癫痫患者的增殖和中间神经元迁移是必不可少的。
EMBO Mol Med. 2020 Jun 8;12(6):e11419. doi: 10.15252/emmm.201911419. Epub 2020 May 7.
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First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea.韩国首例Unverricht-Lundborg病患者的分子诊断
Yonsei Med J. 2018 Aug;59(6):798-800. doi: 10.3349/ymj.2018.59.6.798.
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A novel c132-134del mutation in Unverricht-Lundborg disease and the review of literature of heterozygous compound patients.Unverricht-Lundborg病中的一种新型c132 - 134del突变及杂合复合患者文献综述
Epilepsia. 2017 Feb;58(2):e31-e35. doi: 10.1111/epi.13626. Epub 2016 Nov 26.
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