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Hereditary episodic ataxia

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Description

Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2.

ORDO

  • Mode of Inheritance

    VARIANTS

    71

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    Genes

    External Links

    • OMIM
    • Orphanet

      211062

    • HPO

      1570

    • Medgen

      C1720189

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