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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
Epilepsy, Nocturnal Frontal Lobe, 1 (ENFL1)
Alias:
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 1
Enfl1
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Epilepsy, Frontal Lobe, Nocturnal, Type 1
Epilepsy, Nocturnal Frontal Lobe, Type 1
Nocturnal Frontal Lobe Epilepsy 1
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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
癫痫,夜间额叶,1型,又称常染色体显性夜间额叶癫痫1型,与常染色体显性夜间额叶癫痫和癫痫,夜间额叶,3型有关。与癫痫,夜间额叶,1型相关的重要的基因是CHRNA4(乙酰胆碱受体尼古丁α4亚基)。相关组织包括大脑,相关表型包括智力障碍和癫痫发作。
Related ID:
MALACARDS:EPL073
OMIM:600513
MESH:D017034
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
1
20
17
EPL073
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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