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Progressive Myoclonus Epilepsy 1b

Alias:
Epm1b
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Progressive Myoclonus Epilepsy 1b, also known as epm1b, is related to epilepsy, progressive myoclonic, 1b and chromosome 17q23.1-q23.2 deletion syndrome. An important gene associated with Progressive Myoclonus Epilepsy 1b is PRICKLE1 (Prickle Planar Cell Polarity Protein 1).
Related ID：
MALACARDS：PRG144

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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9
53
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PRG144

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
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Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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