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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
非罕见病
Epilepsy, Idiopathic Generalized (EIG)
Alias:
Idiopathic Generalized Epilepsy
Epilepsy, Generalized
Generalised Epilepsy
Epilepsy, Idiopathic, Generalized, Susceptibility to, Type 1
Epilepsy, Idiopathic Generalized, Susceptibility to, 1
Epilepsy, Idiopathic Generalized, Susceptibility to
Epilepsy, Idiopathic Generalized 1
Epilepsy, Idiopathic, Generalized
Eig
Ige
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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,特发性全面性,也被称为特发性全面性癫痫,与癫痫,特发性全面性5和伴有发热性惊厥的全面性癫痫,类型7有关,症状包括惊厥,非癫痫性抽搐和失神发作。与癫痫,特发性全面性相关的基因是GABRA1(γ-氨基丁酸A受体亚单位α1),其相关通路/超级通路包括Celecoxib通路,药物动力学和抑郁症中的维生素D敏感钙信号通路。在该疾病的背景下,已提到Valproic acid和Topiramate。附属组织包括大脑和颞叶,相关表型为全身肌阵挛发作和双侧强直阵挛发作。
Related ID:
MALACARDS:EPL140
OMIM:600669
MESH:D004829
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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78
863
32
EPL140
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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