Developmental and Epileptic Encephalopathy 21 (DEE21)

Developmental and Epileptic Encephalopathy 21(来自ICD-11)
别称:
Epileptic Encephalopathy, Early Infantile, 21
Dee21
Developmental and Epileptic Encephalopathy, 21
Eiee21
Encephalopathy, Epileptic, Early Infantile, Type 21
Early Infantile Epileptic Encephalopathy 21
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Developmental and Epileptic Encephalopathy 21, also known as epileptic encephalopathy, early infantile, 21, is related to developmental and epileptic encephalopathy 7 and early infantile epileptic encephalopathy. An important gene associated with Developmental and Epileptic Encephalopathy 21 is NECAP1 (NECAP Endocytosis Associated 1), and among its related pathways/superpathways are Cardiac conduction and Neuropathic Pain-Signaling in Dorsal Horn Neurons. Affiliated tissues include brain and eye, and related phenotypes are decreased fetal movement and profound global developmental delay
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基础信息

遗传方式
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参考文献
MALACARDS
AR
Unknown
--
15
216
3

疾病表征

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基因 & 突变

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靶点药物

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疾病模型

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MGI
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