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episodic ataxia type 2
Summary
- 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.
- Super Class
- episodic ataxia
External Links
- Disease Ontology
- DOID:0050990
- Mondo Disease Ontology
- MeSH
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P14314 | Glucosidase 2 subunit beta |
