Developmental and Epileptic Encephalopathy 21 (DEE21)

Alias:
Epileptic Encephalopathy, Early Infantile, 21
Dee21
Developmental and Epileptic Encephalopathy, 21
Eiee21
Encephalopathy, Epileptic, Early Infantile, Type 21
Early Infantile Epileptic Encephalopathy 21
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
发育性和癫痫性脑病21,也称为癫痫性脑病,早婴儿型,21,与发育性和癫痫性脑病7和早婴儿型癫痫性脑病有关。与发育性和癫痫性脑病21有关的重要基因是NECAP1(NECAP内吞相关1),其相关通路/超级通路包括心脏传导和背角神经元的神经性疼痛信号通路。附属组织包括大脑和眼睛,相关表型为胎儿运动减少和严重的全球发育延迟。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
15
216
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!
微信
信息比对
科研助手
使用教程
回到顶部