Myoclonic Epilepsy of Lafora (EPM2)

Alias:
Lafora Disease
Epm2
Epilepsy, Progressive Myoclonic 2b
Epilepsy, Progressive Myoclonic 2a
Progressive Myoclonic Epilepsy Type 2
Progressive Myoclonus Epilepsy Type 2
Epilepsy, Progressive Myoclonic, 2b
Lafora's Disease
Pme Type 2
Epm2a
Melf
Progressive Myoclonic Epilepsy Lafora Type
Lafora Progressive Myoclonic Epilepsy
Epilepsy, Progressive Myoclonic, 2a
Epilepsy, Progressive Myoclonic 2
Progressive Myoclonic Epilepsy 2a
Progressive Myoclonic Epilepsy 2b
Progressive Myoclonic Epilepsy 2
Epilepsy, Myoclonic, of Lafora
Lafora Body Disease
Epm2b
Lbd
Ld
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myoclonic Epilepsy of Lafora, also known as lafora disease, is related to progressive myoclonus epilepsy 10 and myoclonic epilepsy of unverricht and lundborg, and has symptoms including myoclonus, hallucinations, visual and unspecified visual loss. An important gene associated with Myoclonic Epilepsy of Lafora is EPM2A (EPM2A Glucan Phosphatase, Laforin), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Insulin and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include liver and brain, and related phenotypes are lafora bodies and seizure
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Adolescent
1-9/1000000
46
271
60

Medical Symptom

#
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

Title
PMID
Journal
Year
IF
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