Early Myoclonic Encephalopathy

Early Myoclonic Encephalopathy(来自ICD-11)
别称:
Myoclonic Epilepsy
Epilepsies, Myoclonic
Myoclonic Seizure
Early Myoclonic Encephalopathy with Suppression-Bursts
Epileptic Seizures - Myoclonic
Epileptic Seizures, Myoclonic
Myoclonic Seizure Disorder
Myoclonia Epileptica
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Early Myoclonic Encephalopathy, also known as myoclonic epilepsy, is related to epilepsy, myoclonic juvenile and myoclonic epilepsy of unverricht and lundborg, and has symptoms including myoclonus, myoclonic seizures and muscle spasticity. An important gene associated with Early Myoclonic Encephalopathy is SLC25A22 (Solute Carrier Family 25 Member 22). The drugs Liver Extracts and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include brain and liver, and related phenotypes are eeg abnormality and myoclonus
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相关ID:
MESH:D004831

基础信息

遗传方式
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参考文献
MALACARDS
AR
AD
Newborn
<1/1000000
70
687
4

疾病表征

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靶点药物

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MGI
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