Childhood Absence Epilepsy

Childhood Absence Epilepsy(来自ICD-11)
别称:
Absence Seizure
Pyknolepsy
Petit Mal Epilepsy
Absence Seizures
Absence Epilepsy, Childhood
Petit Mal Seizure
Epilepsy, Absence
Absence Epilepsy
Pykno-Epilepsy
Pycnolepsy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Childhood Absence Epilepsy, also known as absence seizure, is related to epilepsy, idiopathic generalized and febrile seizures, familial, 8, and has symptoms including seizures, absence attacks and absence seizures. An important gene associated with Childhood Absence Epilepsy is PCDH19 (Protocadherin 19), and among its related pathways/superpathways are Sweet Taste Signaling and Transmission across Chemical Synapses. The drugs Lamotrigine and Ethosuximide have been mentioned in the context of this disorder. Affiliated tissues include brain and eye, and related phenotypes are eeg with spike-wave complexes (2.5-3.5 hz) and typical absence seizure
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相关ID:
MESH:D004832
ICD11:726403046

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
AD
Child
1-9/100000
96
1087
1

疾病表征

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靶点药物

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MGI
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