Episodic Ataxia, Type 3
| Disorder | |
|---|---|
| OMIM #: | %606554 (Click to access OMIM database) |
| Disorder: | Episodic Ataxia, Type 3 |
| Also known as: | EA3, ATAXIA, EPISODIC, WITH VERTIGO AND TINNITUS |
| Clinical | |
| Phenotype: | vestibular ataxia, vertigo, tinnitus, interictal myokymia, headache, diplopia, blurry vision, ataxia, weakness, vomiting |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 | |
| Gene: | 1q42 |
| Base Change: | |
| Amino Acid Change: | |
| Last updated: | 2022-11-04 |
| References |
|---|
| Cader MZ, Steckley JL, Dyment DA, McLachlan RS, and Ebers GC. (2005) A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia. Neurology 65(1): 156-158. PubMed ID: 16009908 |
| Steckley JL, Ebers GC, Cader MZ, and McLachlan RS. (2001) An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus. Neurology 57(8): 1499-1502. PubMed ID: 11673600 |
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