Epilepsy, Progressive Myoclonic, 1b (EPM1B)

Alias:
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia
Epilepsy, Progressive Myoclonic 1b
Epm1b
Prickle1-Related Progressive Myoclonic Epilepsy with Ataxia
Progressive Myoclonus Epilepsy with Ataxia
Epilepsy, Progressive Myoclonic, Type 1b
Progressive Myoclonic Epilepsy 1b
Pme with Ataxia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epilepsy, Progressive Myoclonic, 1b, also known as prickle1-related progressive myoclonus epilepsy with ataxia, is related to progressive myoclonus epilepsy and myoclonic epilepsy of unverricht and lundborg, and has symptoms including fine tremor An important gene associated with Epilepsy, Progressive Myoclonic, 1b is PRICKLE1 (Prickle Planar Cell Polarity Protein 1). Affiliated tissues include brain, and related phenotypes are ataxia and dysarthria
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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2
20
7

Medical Symptom

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Description
HPO Frequency
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No data available

Gene & Mutation

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No data available

Disease Model

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MGI
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Publications
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References Literature

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