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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.

Original publication

DOI

10.1212/01.wnl.0000167186.05465.7c

Type

Journal article

Journal

Neurology

Publication Date

12/07/2005

Volume

65

Pages

156 - 158

Keywords

Adolescent, Adult, Ataxia, Child, Chromosome Mapping, Chromosomes, Human, Pair 1, DNA Mutational Analysis, Diagnosis, Differential, Female, Genetic Linkage, Genetic Markers, Genetic Predisposition to Disease, Genetic Testing, Genome, Genotype, Haplotypes, Humans, Inheritance Patterns, Lod Score, Male, Middle Aged, Mutation, Pedigree, Phenotype, Vertigo