Developmental and Epileptic Encephalopathy 85 with or Without Midline Brain Defects (DEE85)

Alias:
Epileptic Encephalopathy, Early Infantile, 85, with or Without Midline Brain Defects
Developmental and Epileptic Encephalopathy, 85, with or Without Midline Brain Defects
Eiee85
Dee85
Developmental and Epileptic Encephalopathy 85, with or Without Midline Brain Defects
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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85伴有或不伴有中线脑缺陷,也称为癫痫性脑病,早婴儿期,85,伴有或不伴有中线脑缺陷,与发育性和癫痫性脑病85有关。与发育性和癫痫性脑病85伴有或不伴有中线脑缺陷有关的重要基因是SMC1A(染色体结构维护1A)。相关组织包括脑和眼,相关表型为癫痫发作和EEG异常。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X染色体
X隐
未知
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1
4
6

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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