Progressive Myoclonus Epilepsy 10 (EPM10)

Alias:
Early-Onset Lafora Body Disease
Epm10
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Progressive Myoclonus Epilepsy 10, also known as early-onset lafora body disease, is related to myoclonus epilepsy and myoclonus. An important gene associated with Progressive Myoclonus Epilepsy 10 is PRDM8 (PR/SET Domain 8), and among its related pathways/superpathways are Diseases of glycosylation and Glycogen metabolism. Affiliated tissues include bone marrow and bone, and related phenotypes are myoclonus and lafora bodies
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
7
40
1

Medical Symptom

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

Gene & Mutation

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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

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PMID
Journal
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IF
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