A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia
M Z Cader1, J L Steckley, D A Dyment
1The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Neurology
|July 13, 2005
Abstract:
Episodic ataxias are ion channel disorders characterized by attacks of incoordination. The authors performed a genome-wide screen in a large pedigree segregating a novel episodic ataxia and found significant linkage on 1q42 with a multipoint lod score of 3.65. Haplotype analysis and fine mapping yielded a peak 2-point lod score of 4.14 and indicated a 4-cM region on 1q42 that is likely to harbor an episodic ataxia gene.
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