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General Information
Name
epilepsy, progressive myoclonic
FlyBase ID
FBhh0000319
Disease Ontology Term
Parent Disease
OMIM
Overview

In humans, multiple genes have been implicated in epileptic disorders; in addition, in some cases, a specific gene is implicated in multiple forms of the disease. This report is for epilepsy, progressive myoclonic (PME) which is characterized by the presence of both muscle contractions (myoclonus) and seizures (epilepsy). A list of PME subtypes, as defined by OMIM, can be found by following the links in the "OMIM phenotypic series" section, below. A subset of these can be found in the table below, with links to more detailed reports for subtypes that have been investigated using fly models.

[updated June 2016 by FlyBase; FBrf0222196]

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

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

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]

Genetics
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
epilepsy, myoclonic progressive familial
myoclonic progressive familial epilepsy
PME
progressive myoclonus epilepsy
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
        Selected mammalian transgenes
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
        Allele
        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
        Allele
        Allele class
        Mutagen
        Publicly Available Stocks
        References (2)