Juvenile Absence Epilepsy (JAE)

Alias:
Jae
Epilepsy Juvenile Absence
Absence Epilepsy
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Juvenile Absence Epilepsy, also known as jae, is related to focal epilepsy and epilepsy, idiopathic generalized, and has symptoms including seizures, absence attacks and absence seizures. An important gene associated with Juvenile Absence Epilepsy is EFHC1 (EF-Hand Domain Containing 1), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and CREB Pathway. The drugs Ethosuximide and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include brain and eye, and related phenotypes are bilateral tonic-clonic seizure and generalized-onset seizure
Related ID:
ICD11:519416529

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Adolescent
1-9/100000
16
175
--

Medical Symptom

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

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top