Progressive Myoclonus Epilepsy 7 (EPM7)

Alias:
Myoclonus Epilepsy and Ataxia Due to Potassium Channel Mutation
Progressive Myoclonic Epilepsy Due to Kv3.1 Deficiency
Progressive Myoclonus Epilepsy Type 7
Pme Type 7
Epm7
Meak
Favorite
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7,又名钾通道突变引起的肌阵挛性癫痫和共济失调,与乌尔夫里希特和隆博格肌阵挛性癫痫以及肌阵挛性癫痫有关。与进行性肌阵挛性癫痫7有关的重要基因是KCNC1(钾电压门控通道C亚家族成员1)。附属组织包括肺和脑。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
--
9
54
--

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
微信
信息比对
科研助手
使用教程
回到顶部