episodic ataxia type 2

Term ID

DOID:0050990

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. https://www.omim.org/entry/108500

References

• MESH:C535506
• OMIM:108500

Ontology

Human Disease   ( DOID:0050990 )