Seizures, Benign Familial Neonatal, 1 (BFNS1)

Alias:
Myokymia
Myokymia with Neonatal Epilepsy
Seizures, Benign Neonatal, 1
Bfns1
Convulsions Benign Familial Neonatal 1 with Myokymia
Epilepsy, Benign Neonatal, 1, and/or Myokymia
Benign Neonatal Epilepsy 1 and/or Myokymia
Benign Neonatal Epilepsy 1 with Myokymia
Benign Neonatal Epilepsy Atypical Severe
Benign Familial Neonatal Convulsions 1
Seizures, Benign Familial Neonatal 1
Seizures, Benign Neonatal, Type 1
Benign Neonatal Epilepsy 1
Bfnc/myokymia Syndrome
Myokymia Isolated
Bfnc1
Ebn1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Seizures, Benign Familial Neonatal, 1, also known as myokymia, is related to episodic ataxia and migraine with or without aura 1, and has symptoms including myokymia An important gene associated with Seizures, Benign Familial Neonatal, 1 is KCNQ2 (Potassium Voltage-Gated Channel Subfamily Q Member 2). Affiliated tissues include skin and brain, and related phenotypes are global developmental delay and motor delay
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
--
2
33
40

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
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IF
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