Developmental and Epileptic Encephalopathy 16 (DEE16)

Alias:
Epileptic Encephalopathy, Early Infantile, 16
Dee16
Developmental and Epileptic Encephalopathy, 16
Eiee16
Encephalopathy, Epileptic, Early Infantile, Type 16
Progressive Myoclonic Epilepsy with Dystonia
Progressive Myoclonus Epilepsy with Dystonia
Early Infantile Epileptic Encephalopathy 16
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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16型脑病,也称为癫痫性脑病、婴儿早期16型,与乌尔夫里希特和隆博格的肌阵挛性癫痫和早期肌阵挛性脑病有关,症状包括偏瘫、肌阵挛和外锥体运动功能异常。与发育性和癫痫性16型脑病有关的重要基因是TBC1D24(TBC1域家族成员24)。在该疾病的背景下提到了Vaccines药物。附属组织包括眼睛和大脑,相关表型为异常锥体征和反复上呼吸道感染。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
6
37
10

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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