West Syndrome

Alias:
Infantile Spasms
Infantile Spasms Syndrome
Epileptic Encephalopathy, Early Infantile, 1
X-Linked Infantile Spasm Syndrome
is -[infantile Spasm]
Spasms, Infantile
West's Syndrome
Infantile Spasm
Salaam Spasm
Salaam Tic
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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
West 综合征,又称婴儿痉挛症,与发育性和癫痫性脑病 1 和 lennox-gastaut 综合征有关,症状包括癫痫发作。与 West 综合征有关的重要基因是 ARX (Aristaless 相关同源盒),其相关通路/超级通路包括神经科学和 L1CAM 交互作用。在该疾病的背景下提到了药物 PK 11195 和乙醇。附属组织包括大脑和皮肤,相关表型是发育退化和肌阵挛。
Related ID:
MESH:D013036
ICD11:1023597213

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X显
常显
常隐
X染色体
新生儿
1-9/100000
156
1492
116

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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