Myoclonic Epilepsy of Unverricht and Lundborg (EPM1)

Myoclonic Epilepsy of Unverricht and Lundborg(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
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myoclonic Epilepsy of Unverricht and Lundborg, also known as progressive myoclonic epilepsy, is related to progressive myoclonus epilepsy 1b and progressive myoclonus epilepsy 7, and has symptoms including myoclonus and ataxia. An important gene associated with Myoclonic Epilepsy of Unverricht and Lundborg is CSTB (Cystatin B). The drugs Brivaracetam and gamma-Globulins have been mentioned in the context of this disorder. Affiliated tissues include brain and globus pallidus, and related phenotypes are myoclonus and limb ataxia
查看原文 参与反馈
相关ID:
MESH:D020191
ICD11:173613583

基础信息

遗传方式
发病时间
患病率/发病率
相关基因
相关模型
参考文献
MALACARDS
AR
Child
1-9/100000
7
47
113

疾病表征

#
分类
表征
HPO概率
Orphanet概率
HPO来源
暂无相关数据

基因 & 突变

#
基因
作用分类
分值
突变数量
暂无相关数据

靶点药物

药物名称
CAS号
研发状态
临床阶段
暂无相关数据

疾病模型

类型
名称
MGI
相关基因
品系来源
文献数量
暂无相关数据

文献报道

标题
PMID
期刊
年代
IF
暂无数据
Wechat
Comparison
Al agent
Tutorials
Back to top