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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Early Infantile Epileptic Encephalopathy (EIEE)
Alias:
Ohtahara Syndrome
Early Infantile Epileptic Encephalopathy with Suppression-Bursts
Early Infantile Epileptic Encephalopathy with Suppression Bursts
Eiee
Early Infantile Epileptic Encephalopathy with Burst-Suppression
Encephalopathy, Epileptic, Early Infantile
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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
早发婴儿性癫痫性脑病,也称为Ohtahara综合症,与发育性和癫痫性脑病1和发育性和癫痫性脑病7有关。与早发婴儿性癫痫性脑病有关的重要基因是SLC25A22(溶质载体家族25成员22),其相关通路/超级通路包括化学突触传递和G-βγ信号转导。相关组织包括脑和眼,相关表型为癫痫和智力障碍。
Related ID:
MALACARDS:ERL057
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X显
常显
常隐
X染色体
新生儿
1-9/100000
176
1399
499
ERL057
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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