Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions (EPM3)

Alias:
Progressive Myoclonic Epilepsy Type 3
Epm3
Epilepsy, Progressive Myoclonic 3, with or Without Intracellular Inclusions
Progressive Myoclonic Epilepsy Due to Kctd7 Deficiency
Progressive Myoclonus Epilepsy Type 3
Epilepsy, Progressive Myoclonic 3
Cln14 Disease
Pme Type 3
Cln14
Epilepsy, Myoclonic, Progressive, Type 3
Ceroid Lipofuscinosis, Neuronal, 14
Neuronal Ceroid Lipofuscinosis 14
Progressive Myoclonic Epilepsy 3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions, also known as progressive myoclonic epilepsy type 3, is related to progressive myoclonus epilepsy 3, and has symptoms including ataxia, truncal and myoclonic seizures. An important gene associated with Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions is KCTD7 (Potassium Channel Tetramerization Domain Containing 7). Affiliated tissues include eye and skin, and related phenotypes are intellectual disability and dysarthria
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
<1/1000000
1
4
17

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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