episodic ataxia type 2
Information
- Disease name
- episodic ataxia type 2
- Disease ID
- DOID:0050990
- Description
- "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." [url:https\://www.omim.org/entry/108500]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01543750 | Withdrawn | Phase 2 | 4-Aminopyridine in Episodic Ataxia Type 2 |
- Disase is a (Disease Ontology)
- DOID:963
- Cross Reference ID (Disease Ontology)
- MESH:C535506
- Cross Reference ID (Disease Ontology)
- MIM:108500
- MedGen concept unique identifier (MedGen Concept name)
- C1720416
- MedGen unique identifier (MedGen Concept name)
- 314039