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General Information
Name
epilepsy
FlyBase ID
FBhh0000268
Disease Ontology Term
Parent Disease
OMIM
Overview

Epilepsy is a genetically and mechanistically heterogeneous group of disorders. A number of models of epilepsy in flies are based on genes known to be implicated in epilepsy in humans; other models in flies identify additional genes with a possible role in the disease (postulated models). In humans, multiple genes have been implicated in epilepsy; in some cases, a specific gene or gene family is implicated in several different forms or categories of the disease. Reports of experimental results in flies have been organized by causative gene or gene family and cross-referenced under general diagnostic category.

One of the phenotypes described for Drosophila genes that model epilepsy is bang-sensitivity (FBcv:0000391), a phenotype similar to seizure sensitivity in humans (reviewed in FBrf0215230). In addition to genes that model forms of epilepsy, several fly genes characterized as models of mitochondrial disease also exhibit bang-sensitive phenotypes, including sesB (see mitochondrial disease and seizure sensitivity, SLC25A4(ANT1)-related, FBhh0000372), mt:ND2 (see mitochondrial complex I deficiency, MT-ND2-related, FBhh0000382), mt:ATPase6 (see mitochondrial complex V disorders, MT-ATP6-related, FBhh0000376), and Ttc19 (see mitochondrial complex III deficiency, nuclear type 2, FBhh0000369).

[updated Aug. 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: epilepsy
OMIM report
Human gene(s) implicated
Symptoms and phenotype

Epilepsy is a chronic neurological disease marked by recurrent unprovoked seizures. An epileptic seizure is a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain, and may include sensory disturbance, loss of consciousness, or convulsions. [based on http://www.epilepsy.com/article/2014/4/revised-definition-epilepsy; Epilepsy Foundation; 2016.05.23]

Genetics

A genetically heterogeneous group of disorders.

Cellular phenotype and pathology

A seizure is caused by a sudden surge of electrical activity in the brain. [http://www.epilepsy.com/learn/epilepsy-101/what-seizure; Epilepsy Foundation; 2016.05.23]

Molecular information
External links
Disease synonyms
epilepsy, generalized, with febrile seizures plus
epilepsy, progressive myoclonic
epilepsy syndrome
epileptic encephalopathy, early infantile
epileptic syndrome
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
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        Publicly Available Stocks
        References (14)