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

Journal article published in 2005 by Mz Z. Cader ORCID, Jl L. Steckley, Da A. Dyment, Rs S. McLachlan, Gc C. Ebers
This paper was not found in any repository; the policy of its publisher is unknown or unclear.
This paper was not found in any repository; the policy of its publisher is unknown or unclear.

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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.