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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
Status Epilepticus
Alias:
Grand Mal Status Epilepticus
Epilepsy with Status Epilepticus
Grand Mal Status
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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
癫痫持续状态,又称大发作持续状态,与癫痫、早发、4、维生素B6依赖性和婴儿恶性游走性局灶性发作有关,症状包括癫痫发作和症状性发作。与癫痫持续状态有关的重要基因是GALC(半乳糖脑苷脂酶),其相关通路/超级通路包括G-βγ信号通路和背角神经病理性疼痛信号通路。在该疾病的背景下,已提到药物Fosphenytoin和Phenytoin。附属组织包括大脑和颞叶,相关表型为胰腺谱系生存能力下降和神经系统。
Related ID:
MALACARDS:STT001
MESH:D013226
ICD11:906174792
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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45
608
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STT001
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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