FB2024_04 , released June 25, 2024
Human Disease Model Report: epilepsy, familial adult myoclonic
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General Information
Name
epilepsy, familial adult myoclonic
FlyBase ID
FBhh0001570
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 adult myoclonic (FAME) which is characterized by the adult-onset presence of both muscle contractions (myoclonus) and seizures (epilepsy). A list of FAME 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 Apr. 2024 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: epilepsy, familial adult myoclonic
OMIM report
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; 2024.04.01]

(FlyBase Curators, 2013-)
Genetics
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
FAME
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
        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)