Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus
Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus
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.
565-567
Chan, E.M.
12b43f87-8c20-4f63-93d3-1ec8f6893f39
Omer, S.
d40ab8ff-6787-4967-891f-0e7c1bcbd900
Ahmed, M.
b5631738-babc-42be-b182-d1ad111ef32f
Bridges, L.R.
4858d61d-57ff-4265-9164-745dc342ca4c
Bennett, C.
c1ca666c-c3a7-443f-a530-7ebbb75cf7d9
Scherer, S.W.
1b1b3f2a-5d32-43ce-86ba-dd37cb2cd932
Minassian, B.A.
2c420672-f311-4ddb-86f6-3b3d9c6a5e31
10 August 2004
Chan, E.M.
12b43f87-8c20-4f63-93d3-1ec8f6893f39
Omer, S.
d40ab8ff-6787-4967-891f-0e7c1bcbd900
Ahmed, M.
b5631738-babc-42be-b182-d1ad111ef32f
Bridges, L.R.
4858d61d-57ff-4265-9164-745dc342ca4c
Bennett, C.
c1ca666c-c3a7-443f-a530-7ebbb75cf7d9
Scherer, S.W.
1b1b3f2a-5d32-43ce-86ba-dd37cb2cd932
Minassian, B.A.
2c420672-f311-4ddb-86f6-3b3d9c6a5e31
Chan, E.M., Omer, S., Ahmed, M., Bridges, L.R., Bennett, C., Scherer, S.W. and Minassian, B.A.
(2004)
Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus.
Neurology, 63 (3), .
Abstract
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.
Text
00006114-200408100-00034.pdf
- Version of Record
Restricted to Repository staff only
More information
Published date: 10 August 2004
Additional Information:
Brief communication
Identifiers
Local EPrints ID: 27546
URI: http://eprints.soton.ac.uk/id/eprint/27546
ISSN: 0028-3878
PURE UUID: 1b1bd98e-748b-4b16-a412-16caf8f21fbd
Catalogue record
Date deposited: 28 Apr 2006
Last modified: 15 Mar 2024 07:19
Export record
Contributors
Author:
E.M. Chan
Author:
S. Omer
Author:
M. Ahmed
Author:
L.R. Bridges
Author:
C. Bennett
Author:
S.W. Scherer
Author:
B.A. Minassian
Download statistics
Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.
View more statistics