Term Name: | episodic ataxia type 2 |
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Synonyms: | |
Definition: | An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A. |
Ontology: | Human Disease [DOID:0050990] ( DOID:0050990 ) |