Myoclonic Epilepsy Myopathy Sensory Ataxia (SCA)

Alias:
Spinocerebellar Ataxia with Epilepsy
Scae
Mitochondrial Spinocerebellar Ataxia with Epilepsy
Memsa
Mscae
Sca
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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
肌阵挛性癫痫肌病感觉性共济失调,也被称为伴有癫痫的脊髓小脑共济失调,与感觉性共济失调性神经病、运动障碍和眼肌麻痹以及常染色体显性小脑共济失调有关。与肌阵挛性癫痫肌病感觉性共济失调相关的基因是POLG(DNA聚合酶γ,催化亚基)。相关组织包括小脑和大脑,相关表型包括眼睑下垂和抑郁。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
孩童期
--
2
12
18

Medical Symptom

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

Gene & Mutation

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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!
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