Epilepsy, Progressive Myoclonic, 9 (EPM9)

Alias:
Progressive Myoclonic Epilepsy Type 9
Epm9
Progressive Myoclonic Epilepsy Due to Lmnb2 Deficiency
Progressive Myoclonus Epilepsy Type 9
Epilepsy, Progressive Myoclonic 9
Pme Type 9
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epilepsy, Progressive Myoclonic, 9, also known as progressive myoclonic epilepsy type 9, is related to progressive myoclonus epilepsy 9. An important gene associated with Epilepsy, Progressive Myoclonic, 9 is LMNB2 (Lamin B2). Affiliated tissues include brain and tongue, and related phenotypes are scoliosis and gait ataxia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
1
11
1

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
No Data Found!
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