-相关进行性肌阵挛癫痫：一例报告
-Related Progressive Myoclonus Epilepsy: A Case Report.
作者信息
Salari Mehri, Sadeghzadeh Sara, Etemadifar Masoud
机构信息
Shahid Beheshti University of Medical Sciences Tehran Iran.
Student Research Committee Shahid Beheshti University of Medical Sciences Tehran Iran.
出版信息
Clin Case Rep. 2025 Aug 4;13(8):e70758. doi: 10.1002/ccr3.70758. eCollection 2025 Aug.
Abstract
-related progressive myoclonus epilepsy (EPM7) is a rare disorder causing seizures, myoclonus, and ataxia. The first reported Iranian case highlights the role of genetic testing in diagnosis and potential future treatments, including gene therapy and novel pharmacological approaches.
摘要
相关进行性肌阵挛癫痫（EPM7）是一种罕见疾病，可导致癫痫发作、肌阵挛和共济失调。首例报道的伊朗病例凸显了基因检测在诊断以及未来潜在治疗（包括基因治疗和新型药理学方法）中的作用。
Zotero 插件