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Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus

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.
0028-3878
565-567
Chan, E.M.
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Omer, S.
d40ab8ff-6787-4967-891f-0e7c1bcbd900
Ahmed, M.
b5631738-babc-42be-b182-d1ad111ef32f
Bridges, L.R.
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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.
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), 565-567.

Record type: Article

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.

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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

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Date deposited: 28 Apr 2006
Last modified: 09 Dec 2019 19:09

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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

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