Amish, Mennonite, and Hutterite
Genetic Disorder Database

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:  
Mutations
1     
Gene: 1q42
Base Change:
Amino Acid Change:
Last updated: 2007-08-10 

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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