Epilepsy, Myoclonic Juvenile (EJM)

Alias:
Juvenile Myoclonic Epilepsy
Janz Syndrome
Myoclonic Epilepsy, Juvenile, Susceptibility to, 1
Jme
Myoclonic Epilepsy, Juvenile
Juvenile Myoclonus Epilepsy
Petit Mal, Impulsive
Ejm
Susceptibility to Juvenile Myoclonic Epilepsy 1
Jme - [juvenile Myoclonic Epilepsy]
Myoclonic Epilepsy, Juvenile 1
Adolescent Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 1
Epilepsy, Myoclonic, Juvenile
Myoclonic Epilepsy Juvenile
Myoclonic Epilepsy of Janz
Petit Mal Impulsive
Ejm1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epilepsy, Myoclonic Juvenile, also known as juvenile myoclonic epilepsy, is related to myoclonic epilepsy, juvenile 4 and epilepsy, idiopathic generalized, and has symptoms including myoclonus and absence seizures. An important gene associated with Epilepsy, Myoclonic Juvenile is EFHC1 (EF-Hand Domain Containing 1), and among its related pathways/superpathways are Transmission across Chemical Synapses and GABA B receptor activation. Affiliated tissues include brain and eye, and related phenotypes are generalized-onset seizure and eeg with polyspike wave complexes
Related ID:
MESH:D020190
ICD11:1014397110

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Adolescent
--
90
820
20

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!
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