Progressive myoclonus epilepsy with polyglucosans (Lafora disease) - Evidence for a third locus

被引：69

作者：

Chan, EM

Omer, S

Ahmed, M

Bridges, LR

Bennett, C

Scherer, SW

Minassian, BA

机构：

[1] Hosp Sick Children, Res Inst, Program Genet & Genom Biol, Toronto, ON M5G 1X8, Canada

[2] Univ Toronto, Dept Mol & Med Genet, Toronto, ON M5G 1X8, Canada

[3] Univ London St Georges Hosp, Dept Neurol, London, England

[4] St Jamess Univ Hosp, Dept Clin Genet, Leeds, W Yorkshire, England

[5] Univ Leeds, Leeds Gen Infirm, Dept Pathol, Leeds LS2 9JT, W Yorkshire, England

[6] Hosp Sick Children, Dept Genet & Genom Biol, Dept Pediat, Div Neurol, Toronto, ON M5G 1X8, Canada

来源：

NEUROLOGY | 2004年 / 63卷 / 03期

关键词：

D O I：

10.1212/01.WNL.0000133215.65836.03

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Lafora disease (LD) is the most common teenage-onset progressive myoclonus epilepsy. It is caused by recessive mutations in the EPM2A or EPM2B genes. The authors describe a family with three affected members with no mutations in either gene. Linkage and haplotype analyses exclude both loci from causative involvement in this family. Therefore, a third LD locus is predicted. Its identification will be a crucial element in the understanding of the biochemical pathway underlying the generation of Lafora bodies and LD.

引用

页码：565 / 567

页数：3

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