Epilepsy, Progressive Myoclonic, 6 (EPM6)

Alias:
Progressive Myoclonic Epilepsy Type 6
Epm6
Gosr2-Related Progressive Myoclonus Ataxia
North Sea Progressive Myoclonus Epilepsy
Progressive Myoclonus Epilepsy Type 6
Epilepsy, Progressive Myoclonic 6
Pme Type 6
Epilepsy, Myoclonic, Progressive, Type 6
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epilepsy, Progressive Myoclonic, 6, also known as progressive myoclonic epilepsy type 6, is related to myoclonic epilepsy of unverricht and lundborg and myoclonus epilepsy, and has symptoms including ataxia, seizures and drop attack. An important gene associated with Epilepsy, Progressive Myoclonic, 6 is GOSR2 (Golgi SNAP Receptor Complex Member 2). Affiliated tissues include brain, and related phenotypes are scoliosis and ataxia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
<1/1000000
2
7
5

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

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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
Year
IF
No Data Found!
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