Benign Familial Infantile Epilepsy (BFIC)

Benign Familial Infantile Epilepsy(来自ICD-11)
别称:
Benign Familial Infantile Convulsions
Benign Familial Infantile Seizures
Bfie
Bfis
Benign Familial Infantile Convulsions Syndrome
Benign Familial Infantile Convulsion
Familial Benign Neonatal Epilepsy
Watanabe-Vigevano Syndrome
Bfic
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Benign Familial Infantile Epilepsy, also known as benign familial infantile convulsions, is related to seizures, benign familial infantile, 5 and convulsions, familial infantile, with paroxysmal choreoathetosis, and has symptoms including cyanosis An important gene associated with Benign Familial Infantile Epilepsy is SCN2A (Sodium Voltage-Gated Channel Alpha Subunit 2), and among its related pathways/superpathways are Transmission across Chemical Synapses and Cardiac conduction. Affiliated tissues include brain and eye, and related phenotypes are normal interictal eeg and apnea
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相关ID:
ICD11:1944845279

基础信息

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参考文献
MALACARDS
AD
Newborn
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48
529
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