West Syndrome

West Syndrome(来自ICD-11)
别称:
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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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
West Syndrome, also known as infantile spasms, is related to developmental and epileptic encephalopathy 1 and lennox-gastaut syndrome, and has symptoms including seizures An important gene associated with West Syndrome is ARX (Aristaless Related Homeobox), and among its related pathways/superpathways are Neuroscience and L1CAM interactions. The drugs PK 11195 and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include brain and skin, and related phenotypes are developmental regression and myoclonus
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相关ID:
MESH:D013036
ICD11:1023597213

基础信息

遗传方式
发病时间
患病率/发病率
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参考文献
MALACARDS
XLD
AD
AR
XL
Newborn
1-9/100000
156
1492
116

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靶点药物

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MGI
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