Seizures, Benign Familial Infantile, 3 (BFIS3)

Alias:
Benign Familial Neonatal-Infantile Seizures
Bfnis
Seizures, Benign Familial Neonatal-Infantile
Benign Neonatal-Infantile Epilepsy
Bfis3
Bfic3
Seizures, Infantile, Benign, Familial, Type 2
Benign Familial Neonatal-Infantile Epilepsy
Convulsions, Benign Familial Infantile, 3
Benign Familial Infantile Convulsions 3
Benign Familial Infantile Seizures, 3
Benign Familial Infantile Seizures 3
Familial Benign Neonatal Epilepsy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Seizures, Benign Familial Infantile, 3, also known as benign familial neonatal-infantile seizures, is related to benign familial neonatal epilepsy and benign familial infantile epilepsy, and has symptoms including cyanosis An important gene associated with Seizures, Benign Familial Infantile, 3 is SCN2A (Sodium Voltage-Gated Channel Alpha Subunit 2), and among its related pathways/superpathways are Neuroscience and L1CAM interactions. Affiliated tissues include brain and eye, and related phenotypes are bilateral tonic-clonic seizure and eeg with focal spikes
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
2
31
108

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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