FB2026_02 , released June 18, 2026
Human Disease Model Report: episodic ataxia
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General Information
Name
episodic ataxia
FlyBase ID
FBhh0000563
Disease Ontology Term
Parent Disease
OMIM
Overview

This report describes general characteristics of the group of diseases classified as episodic ataxia (EA). Episodic ataxia is a genetically heterogeneous disorder with multiple causative genes and mapped loci. A list of EA subtypes, as defined by OMIM, can be found by following the link in the "OMIM phenotypic series" section, below. The table below includes links to more detailed reports for subtypes that have been investigated using fly models.

[updated Jun. 2017 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: episodic ataxia
OMIM report
Symptoms and phenotype

Episodic ataxia is a neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia (Jen et al., 2007; pubmed:17575281). [from MIM:160120; 2017.06.27]

(OMIM, 2013-)
Genetics

Episodic ataxia is a genetically heterogeneous disorder. [from MIM:160120; 2017.06.27]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
EA
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)