Epilepsy, Progressive Myoclonic, 8 (EPM8)

Alias:
Progressive Myoclonic Epilepsy Type 8
Epm8
Progressive Myoclonic Epilepsy Due to Cers1 Deficiency
Epilepsy, Myoclonic, Progressive, Type 8
Progressive Myoclonus Epilepsy Type 8
Epilepsy, Progressive Myoclonic 8
Pme Type 8
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epilepsy, Progressive Myoclonic, 8, also known as progressive myoclonic epilepsy type 8, is related to progressive myoclonus epilepsy and progressive myoclonus epilepsy 8, and has symptoms including myoclonus, action An important gene associated with Epilepsy, Progressive Myoclonic, 8 is CERS1 (Ceramide Synthase 1). Affiliated tissues include brain, and related phenotypes are nystagmus and dysarthria
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
2
10
4

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