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GTR Home > Conditions/Phenotypes > Episodic ataxia type 2

Episodic ataxia type 2

Synonyms
Acetazolamide-responsive episodic ataxia syndrome; Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia; Ataxia, familial, paroxysmal; CEREBELLAR ATAXIA, PAROXYSMAL, ACETAZOLAMIDE-RESPONSIVE; CEREBELLOPATHY, HEREDITARY PAROXYSMAL; Episodic ataxia with nystagmus; Nystagmus-associated episodic ataxia
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA (Jen et al., 2007). For a discussion of genetic heterogeneity of episodic ataxia, see EA1 (160120). [from OMIM]

Available tests

61 tests are in the database for this condition.

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Clinical tests (61 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: APCA, BI, CACNL1A4, CAV2.1, DEE42, EA2, EIEE42, FHM, HPCA, MHP, MHP1, SCA6, CACNA1A
    Summary: calcium voltage-gated channel subunit alpha1 A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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