Developmental and Epileptic Encephalopathy 14 (DEE14)

Developmental and Epileptic Encephalopathy 14(来自ICD-11)
别称:
Epileptic Encephalopathy, Early Infantile, 14
Dee14
Developmental and Epileptic Encephalopathy, 14
Eiee14
Encephalopathy, Epileptic, Early Infantile, Type 14
Malignant Migrating Partial Seizures of Infancy
Early Infantile Epileptic Encephalopathy 14
Mmpsi
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Developmental and Epileptic Encephalopathy 14, also known as epileptic encephalopathy, early infantile, 14, is related to malignant migrating focal seizures of infancy and developmental and epileptic encephalopathy 1, and has symptoms including clonus and twitching of facial muscles. An important gene associated with Developmental and Epileptic Encephalopathy 14 is KCNT1 (Potassium Sodium-Activated Channel Subfamily T Member 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 reduced eye contact and hypotonia
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基础信息

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参考文献
MALACARDS
XLD
AD
AR
XL
Newborn
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17
286
46

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靶点药物

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MGI
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