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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
Partial Motor Epilepsy
Alias:
Epilepsy, Partial, Motor
Epilepsy, Focal Motor
Focal Motor Seizure
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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
部分运动性癫痫,又称为癫痫,部分运动性,与局灶性癫痫和家族性或散发性偏瘫性头痛有关,症状包括癫痫发作和非癫痫性抽搐。与部分运动性癫痫相关的重要基因是KCNT1(钾钠激活通道超家族T成员1),其相关通路/超通路包括甜味信号通路和背角神经病理性疼痛信号通路。该病与药物咖啡因有关。相关组织包括枕叶和皮层,相关表型为神经系统和生长/大小/身体区域。
Related ID:
MALACARDS:PRT006
MESH:D020938
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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19
238
--
PRT006
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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