Myoclonic Epilepsy, Familial Infantile (FIME)

Myoclonic Epilepsy, Familial Infantile(来自ICD-11)
别称:
Familial Infantile Myoclonic Epilepsy
Fime
Myoclonic Epilepsy, Infantile, Familial
Eim
Epilepsy, Myoclonic, Infantile, Familial
Familial Infantile Myoclonus Epilepsy
Epilepsy, Myoclonic, Infantile
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myoclonic Epilepsy, Familial Infantile, also known as familial infantile myoclonic epilepsy, is related to tbc1d24-related disorders and tuberous sclerosis 1. An important gene associated with Myoclonic Epilepsy, Familial Infantile is TBC1D24 (TBC1 Domain Family Member 24). Affiliated tissues include cortex and brain, and related phenotypes are seizure and generalized myoclonic seizure
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基础信息

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参考文献
MALACARDS
AR
Newborn
<1/1000000
2
13
7

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MGI
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