Malignant Migrating Focal Seizures of Infancy (MPEI)

Malignant Migrating Focal Seizures of Infancy(来自ICD-11)
别称:
Malignant Migrating Partial Seizures of Infancy
Epilepsy of Infancy with Migrating Focal Seizures
Malignant Migrating Partial Epilepsy of Infancy
Migrating Partial Epilepsy of Infancy
Migrating Partial Seizures of Infancy
Mmpsi
Mmpei
Mpei
Mpsi
Epileptic Encephalopathy, Early Infantile, 14
Early Infantile Epileptic Encephalopathy 14
Migrating Partial Seizures in Infancy
Eiee14
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Malignant Migrating Focal Seizures of Infancy, also known as malignant migrating partial seizures of infancy, is related to developmental and epileptic encephalopathy 14 and epilepsy, and has symptoms including clonus and twitching of facial muscles. An important gene associated with Malignant Migrating Focal Seizures of Infancy is KCNT1 (Potassium Sodium-Activated Channel Subfamily T Member 1), and among its related pathways/superpathways are G-Beta Gamma Signaling and Neuropathic Pain-Signaling in Dorsal Horn Neurons. Affiliated tissues include brain and tongue, and related phenotypes are developmental regression and cognitive impairment
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相关ID:
ICD11:1727727812

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
--
Unknown
<1/1000000
9
100
--

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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