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A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia.

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.
Publication status:
Published

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience, Molecular Medicine
Steckley, JL More by this author
Dyment, DA More by this author
McLachlan, RS More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience, WTC Human Genetics
Journal:
Neurology
Volume:
65
Issue:
1
Pages:
156-158
Publication date:
2005-07-05
DOI:
EISSN:
1526-632X
ISSN:
0028-3878
URN:
uuid:eec2924b-6c23-4bc3-8389-faf12cefa487
Source identifiers:
33164
Local pid:
pubs:33164

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