Progressive Myoclonus Epilepsy 7 (EPM7)

Alias:
Myoclonus Epilepsy and Ataxia Due to Potassium Channel Mutation
Progressive Myoclonic Epilepsy Due to Kv3.1 Deficiency
Progressive Myoclonus Epilepsy Type 7
Pme Type 7
Epm7
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Progressive Myoclonus Epilepsy 7, also known as myoclonus epilepsy and ataxia due to potassium channel mutation, is related to myoclonic epilepsy of unverricht and lundborg and myoclonus epilepsy. An important gene associated with Progressive Myoclonus Epilepsy 7 is KCNC1 (Potassium Voltage-Gated Channel Subfamily C Member 1). Affiliated tissues include lung and brain.
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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9
54
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Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
No data available

Related Drugs

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Phase
No data available

Disease Model

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MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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