Literature DB >> 16009908

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

M Z Cader1, J L Steckley, D A Dyment, R S McLachlan, G C Ebers.   

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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Year:  2005        PMID： 16009908     DOI： 10.1212/01.wnl.0000167186.05465.7c

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  11 in total

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Review 4.  Episodic ataxia type 2.

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5.  A novel locus for episodic ataxia:UBR4 the likely candidate.

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8.  Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes.

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Review 9.  Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.

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Journal:  Int J Mol Sci       Date:  2020-05-20       Impact factor: 5.923

Review 10.  Episodic Ataxias: Faux or Real?

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Journal:  Int J Mol Sci       Date:  2020-09-05       Impact factor: 5.923
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