| Term Name: | episodic ataxia type 2 |
|---|---|
| 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 ) |