episodic ataxia type 1
Information
- Disease name
- episodic ataxia type 1
- Disease ID
- DOID:0050989
- Description
- "An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1." [url:https\://www.omim.org/entry/160120]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01793168 | Recruiting | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford | July 2010 | December 2100 |
- Disase is a (Disease Ontology)
- DOID:963
- Cross Reference ID (Disease Ontology)
- MIM:160120
- OrphaNumber from OrphaNet (Orphanet)
- 37612
- MedGen concept unique identifier (MedGen Concept name)
- C1719788
- MedGen unique identifier (MedGen Concept name)
- 318554