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

Journal article

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.

Authors: Cader, M; Steckley, J; Dyment, D; McLachlan, R; Ebers, G

• Publication status: Published
• Journal: Neurology
• Volume: 65
• Issue: 1
• Pages: 156-158
• Publication date: 2005-07-01
• DOI: 10.1212/01.wnl.0000167186.05465.7c
• EISSN: 1526-632X
• ISSN: 0028-3878
• Language: English
• Keywords: Phenotype; Adolescent; Lod Score; Genetic Testing; DNA Mutational Analysis; Genome; Child; Vertigo; Mutation; Humans; Genotype; Chromosomes, Human, Pair 1; Adult; Female; Middle Aged; Chromosome Mapping; Ataxia; Pedigree; Genetic Predisposition to Disease; Inheritance Patterns; Genetic Linkage; Male; Haplotypes; Genetic Markers; Diagnosis, Differential