Myoclonic Epilepsy of Unverricht and Lundborg (EPM1)

Unverricht–Lundborg肌阵挛性癫痫(来自ICD-11)

别称:

Progressive Myoclonic Epilepsy

Epm1

Uld

Pme

Progressive Myoclonic Epilepsy Type 1

Unverricht-Lundborg Disease

Progressive Myoclonus Epilepsy Type 1

Epilepsy, Progressive Myoclonic 1

Progressive Myoclonus Epilepsy

Unverricht-Lundborg Syndrome

Baltic Myoclonic Epilepsy

Epm1a

Progressive Myoclonic Epilepsy Unverricht-Lundborg Type

Myoclonic Epilepsy, Progressive, X-Linked

Epilepsy, Myoclonic, Progressive, Type 1a

Familial Progressive Myoclonic Epilepsy

Epilepsy, Progressive Myoclonic, 1a

Epilepsy, Progressive Myoclonic, 1

Epilepsy, Progressive Myoclonic 1a

Progressive Myoclonic Epilepsy 1a

Myoclonic Epilepsies, Progressive

Progressive Myoclonic Epilepsy 1

Epilepsy, Myoclonic, Progressive

Myoclonic Epilepsy, Progressive

Epilepsy Progressive Myoclonic

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

进行性肌阵挛性癫痫，也称为Unverricht和Lundborg的肌阵挛性癫痫，与进行性肌阵挛性癫痫1b和进行性肌阵挛性癫痫7有关，症状包括肌阵挛和共济失调。与进行性肌阵挛性癫痫有关的重要基因是CSTB（Cystatin B）。在该疾病的背景下，已提到布维拉塞坦和γ-球蛋白。附属组织包括大脑和苍白球，相关表型为肌阵挛和肢体共济失调。

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