Developmental and Epileptic Encephalopathy 110 (DEE110)

Alias:
Dee110
Early Infantile Epileptic Encephalopathy 110
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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
发育性和癫痫性脑病110,也被称为dee110。与发育性和癫痫性脑病110相关的重要基因是CACNA2D1(钙电压门控通道辅助亚单位α2δ1)。相关组织包括眼睛和大脑,相关表型为痉挛和肌张力低下。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
6
1

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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