Benign Familial Neonatal Epilepsy (BFNS)

Benign Familial Neonatal Epilepsy(来自ICD-11)
别称:
Benign Familial Neonatal Convulsions
Benign Familial Neonatal Seizures
Familial Neonatal Seizures
Bfns
Convulsions Benign Familial Neonatal
Familial Benign Neonatal Convulsions
Benign Neonatal Familial Convulsions
Epilepsy Benign Neonatal Familial
Familial Benign Neonatal Epilepsy
Epilepsy, Benign Neonatal, 2
Benign Familial Convulsion
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Benign Familial Neonatal Epilepsy, also known as benign familial neonatal convulsions, is related to seizures, benign familial neonatal, 2 and seizures, benign familial infantile, 3, and has symptoms including cyanosis An important gene associated with Benign Familial Neonatal Epilepsy is KCNQ3 (Potassium Voltage-Gated Channel Subfamily Q Member 3), and among its related pathways/superpathways are Transmission across Chemical Synapses and Cardiac conduction. Affiliated tissues include brain and thyroid, and related phenotypes are focal-onset seizure and focal tonic seizure
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相关ID:
MESH:D020936

基础信息

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参考文献
MALACARDS
AD
Newborn
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26
305
121

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靶点药物

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MGI
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