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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
Seizures, Benign Familial Neonatal, 2 (BFNS2)
Alias:
Bfns2
Bfnc2
Seizures, Neonatal, Benign, Familial, Type 2
Benign Familial Neonatal Convulsions Type 2
Convulsions, Benign Familial Neonatal, 2
Seizures, Benign Familial Neonatal 2
Epilepsy, Benign Neonatal, Type 2
Seizures, Benign Neonatal, 2
Epilepsy, Benign Neonatal, 2
Benign Neonatal Epilepsy 2
Ebn2
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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,良性家族性新生儿型2,也被称为bfns2,与癫痫,特发性全身性以及良性家族性新生儿癫痫有关。与癫痫,良性家族性新生儿型2相关的重要的基因是KCNQ3(钾电压门控通道亚家族Q成员3),其相关通路/超级通路包括多巴胺-DARPP32反馈通路到cAMP通路和L1CAM相互作用。相关组织包括大脑和子宫。
Related ID:
MALACARDS:SZR023
OMIM:121201
MESH:D020936
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
2
25
18
SZR023
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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