Developmental and Epileptic Encephalopathy 65 (DEE65)

Alias:
Dee65
Developmental and Epileptic Encephalopathy, 65
Epileptic Encephalopathy, Early Infantile, 65
Eiee65
Encephalopathy, Epileptic, Early Infantile, Type 65
Early Infantile Epileptic Encephalopathy 65
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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65,也称为dee65,与韦斯特综合症和早期婴儿癫痫性脑病有关。与发育性和癫痫性脑病65有关的重要基因是CYFIP2(胞质FMR1相互作用蛋白2)。相关组织包括大脑,相关表型为癫痫和失语。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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9
56
3

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!
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