FB2024_03 , released June 25, 2024
Human Disease Model Report: epilepsy, progressive myoclonic 1B
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General Information
Name
epilepsy, progressive myoclonic 1B
FlyBase ID
FBhh0000320
Disease Ontology Term
Parent Disease
OMIM
EPILEPSY, PROGRESSIVE MYOCLONIC, 1B; EPM1B
Overview

The gene implicated in epilepsy, progressive myoclonic 1B (EPM1B) is PRICKLE1, one of a group of related genes in human, PRICKLE1-4. OMIM includes EPM1B in the phenotypic series epilepsy, progressive myoclonic (FBhh0000319). A model of epilepsy using the orthologous fly gene prickle (Dmel\pk), is described in the human disease model report epilepsy, PRICKLE-related (FBhh0000321).

[updated June 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: epilepsy, progressive myoclonic
Symptoms and phenotype

Progressive myoclonic epilepsy (PME) is characterized by the presence of both muscle contractions (myoclonus) and seizures (epilepsy). Myoclonus occurs separately from seizures; the two types of symptoms respond differently to the same drugs and may evolve differently during the course of the disease. Myoclonus is frequently a greater problem than seizures, because it less amenable to control by available drugs. [from NORD, Progressive Myoclonus Epilepsy; 2016.06.13]

(FlyBase Curators, 2013-)

Progressive myoclonic epilepsy refers to a clinically and genetically heterogeneous group of neurodegenerative disorders, usually with debilitating symptoms, although severity varies. [from MIM:254800; 2016.06.13]

(OMIM, 2013-)
Specific Disease Summary: epilepsy, progressive myoclonic 1B
OMIM report

[EPILEPSY, PROGRESSIVE MYOCLONIC, 1B; EPM1B](https://omim.org/entry/612437)

Human gene(s) implicated

[PRICKLE PLANAR CELL POLARITY PROTEIN 1; PRICKLE1](https://omim.org/entry/608500)

Symptoms and phenotype

Progressive myoclonic epilepsy-1B (EPM1B) is characterized by early onset (during childhood), with onset of gait ataxia before the onset of seizures; cognitive function is not typically affected. [from MIM:612437; 2016.06.13]

(OMIM, 2013-)
Genetics

Progressive myoclonic epilepsy-1B (EPM1B) is caused by homozygous mutation in the PRICKLE1 gene.

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
EPM1B
PME1B
progressive myoclonic epilepsy 1B
Ortholog Information
Human gene(s) in FlyBase
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
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        Publicly Available Stocks
        Selected Drosophila transgenes
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        RNAi constructs available
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        Selected Drosophila classical alleles
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        References (2)