Myoclonic Epilepsy of Unverricht and Lundborg (EPM1)

Alias:
Progressive Myoclonic Epilepsy
Epm1
Uld
Pme
Progressive Myoclonic Epilepsy Type 1
Unverricht-Lundborg Disease
Progressive Myoclonus Epilepsy Type 1
Epilepsy, Progressive Myoclonic 1
Progressive Myoclonus Epilepsy
Unverricht-Lundborg Syndrome
Baltic Myoclonic Epilepsy
Epm1a
Progressive Myoclonic Epilepsy Unverricht-Lundborg Type
Myoclonic Epilepsy, Progressive, X-Linked
Epilepsy, Myoclonic, Progressive, Type 1a
Familial Progressive Myoclonic Epilepsy
Epilepsy, Progressive Myoclonic, 1a
Epilepsy, Progressive Myoclonic, 1
Epilepsy, Progressive Myoclonic 1a
Progressive Myoclonic Epilepsy 1a
Myoclonic Epilepsies, Progressive
Progressive Myoclonic Epilepsy 1
Epilepsy, Myoclonic, Progressive
Myoclonic Epilepsy, Progressive
Epilepsy Progressive Myoclonic
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myoclonic Epilepsy of Unverricht and Lundborg, also known as progressive myoclonic epilepsy, is related to progressive myoclonus epilepsy 1b and progressive myoclonus epilepsy 7, and has symptoms including myoclonus and ataxia. An important gene associated with Myoclonic Epilepsy of Unverricht and Lundborg is CSTB (Cystatin B). The drugs Brivaracetam and gamma-Globulins have been mentioned in the context of this disorder. Affiliated tissues include brain and globus pallidus, and related phenotypes are myoclonus and limb ataxia
Related ID:
MESH:D020191
ICD11:173613583

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
1-9/100000
7
47
113

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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