Developmental and Epileptic Encephalopathy 91 (DEE91)

Alias:
Epileptic Encephalopathy, Infantile or Early Childhood, 1
Iecee1
Encephalopathy, Epileptic, Infantile or Early Childhood, Type 1
Infantile or Early Childhood Epileptic Encephalopathy 1
Dee91
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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91型脑病,也称为癫痫性脑病,婴儿或幼儿1型,与飞行恐惧症有关。与发育性和癫痫性91型脑病相关的重要基因是PPP3CA(蛋白磷酸酶3催化亚基α),其相关通路/超通路包括钙调蛋白诱导事件和血清素和焦虑。附属组织包括大脑,相关表型为智力障碍和癫痫。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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2
22
7

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

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PMID
Journal
Year
IF
No Data Found!
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