Seizures, Benign Familial Neonatal, 2 (BFNS2)

Alias:
Bfns2
Bfnc2
Seizures, Neonatal, Benign, Familial, Type 2
Benign Familial Neonatal Convulsions Type 2
Convulsions, Benign Familial Neonatal, 2
Seizures, Benign Familial Neonatal 2
Epilepsy, Benign Neonatal, Type 2
Seizures, Benign Neonatal, 2
Epilepsy, Benign Neonatal, 2
Benign Neonatal Epilepsy 2
Ebn2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Seizures, Benign Familial Neonatal, 2, also known as bfns2, is related to epilepsy, idiopathic generalized and benign familial neonatal epilepsy. An important gene associated with Seizures, Benign Familial Neonatal, 2 is KCNQ3 (Potassium Voltage-Gated Channel Subfamily Q Member 3), and among its related pathways/superpathways are Dopamine-DARPP32 Feedback onto cAMP Pathway and L1CAM interactions. Affiliated tissues include brain and uterus.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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2
25
18

Medical Symptom

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

Gene & Mutation

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Mutations
No data available

Related Drugs

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No data available

Disease Model

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

References Literature

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