Epilepsy, Juvenile Absence 1 (EJA1)

Alias:
Epilepsy, Juvenile Absence, Susceptibility to, 1
Juvenile Absence Epilepsy 1
Eja1
Jae1
Epilepsy, Juvenile Absence, Susceptibility to, Type 1
Susceptibility to Juvenile Absence Epilepsy 1
Absence Epilepsy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epilepsy, Juvenile Absence 1, also known as epilepsy, juvenile absence, susceptibility to, 1, is related to epilepsy, idiopathic generalized 11 and lactose intolerance, and has symptoms including seizures, absence attacks and absence seizures. An important gene associated with Epilepsy, Juvenile Absence 1 is EFHC1 (EF-Hand Domain Containing 1). The drugs Ethosuximide and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotype is Resistant to vaccinia virus (VACV-A4L) infection.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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8
25
6

Medical Symptom

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

Gene & Mutation

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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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