Progressive Myoclonus Epilepsy 6 (EPM6)

Alias:
Gosr2-Related Progressive Myoclonus Ataxia
North Sea Progressive Myoclonus Epilepsy
Progressive Myoclonus Epilepsy Type 6
Pme Type 6
Epm6
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Progressive Myoclonus Epilepsy 6, also known as gosr2-related progressive myoclonus ataxia, is related to myoclonic epilepsy of unverricht and lundborg and myoclonus epilepsy. An important gene associated with Progressive Myoclonus Epilepsy 6 is GOSR2 (Golgi SNAP Receptor Complex Member 2), and among its related pathways/superpathways is Diseases of carbohydrate metabolism. Affiliated tissues include brain, and related phenotype is nervous system.
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
--
10
52
--

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