Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy

Berge A. Minassian; Jesus Sainz; Jose M. Serratosa; Manyee Gee; Lise M. Sakamoto; Saeed Bohlega; Guy Geoffroy; Cathy Barr; Steve W. Scherer; Uwamie Tomiyasu; Stirling Carpenter; Karen Wigg; A. V. Sanghvi; Antonio V. Delgado-Escueta

doi:10.1002/1531-8249(199902)45:2<262::AID-ANA20>3.0.CO;2-9

Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy

Berge A. Minassian, Jesus Sainz, Jose M. Serratosa, Manyee Gee, Lise M. Sakamoto, Saeed Bohlega, Guy Geoffroy, Cathy Barr, Steve W. Scherer, Uwamie Tomiyasu, Stirling Carpenter, Karen Wigg, A. V. Sanghvi, Antonio V. Delgado-Escueta

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Abstract

In 1995, we mapped a gene for Lafora's progressive myoclonus epilepsy in chromosome 6q23-25. In 1997 and 1998, we reduced the size of the locus to 300 kb, and an international collaboration identified mutations in the protein tyrosine phosphatase gene. Here, we examine for heterogeneity through the admixture test in 22 families and estimate the proportion of linked families to be 75 to 85%. Extremely low posterior probabilities of linkage (Wi), exclusionary LOD scores, and haplotypes identify 4 families unlikely to be linked to chromosome 6q24.

Original language	English (US)
Pages (from-to)	262-265
Number of pages	4
Journal	Annals of Neurology
Volume	45
Issue number	2
DOIs	https://doi.org/10.1002/1531-8249(199902)45:2<262::AID-ANA20>3.0.CO;2-9
State	Published - 1999

ASJC Scopus subject areas

Neurology
Clinical Neurology

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10.1002/1531-8249(199902)45:2<262::AID-ANA20>3.0.CO;2-9

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Minassian, B. A., Sainz, J., Serratosa, J. M., Gee, M., Sakamoto, L. M., Bohlega, S., Geoffroy, G., Barr, C., Scherer, S. W., Tomiyasu, U., Carpenter, S., Wigg, K., Sanghvi, A. V., & Delgado-Escueta, A. V. (1999). Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy. Annals of Neurology, 45(2), 262-265. https://doi.org/10.1002/1531-8249(199902)45:2<262::AID-ANA20>3.0.CO;2-9

Minassian, BA, Sainz, J, Serratosa, JM, Gee, M, Sakamoto, LM, Bohlega, S, Geoffroy, G, Barr, C, Scherer, SW, Tomiyasu, U, Carpenter, S, Wigg, K, Sanghvi, AV & Delgado-Escueta, AV 1999, 'Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy', Annals of Neurology, vol. 45, no. 2, pp. 262-265. https://doi.org/10.1002/1531-8249(199902)45:2<262::AID-ANA20>3.0.CO;2-9

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AU - Minassian, Berge A.

AU - Sainz, Jesus

AU - Serratosa, Jose M.

AU - Gee, Manyee

AU - Sakamoto, Lise M.

AU - Bohlega, Saeed

AU - Geoffroy, Guy

AU - Barr, Cathy

AU - Scherer, Steve W.

AU - Tomiyasu, Uwamie

AU - Carpenter, Stirling

AU - Wigg, Karen

AU - Sanghvi, A. V.

AU - Delgado-Escueta, Antonio V.

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AB - In 1995, we mapped a gene for Lafora's progressive myoclonus epilepsy in chromosome 6q23-25. In 1997 and 1998, we reduced the size of the locus to 300 kb, and an international collaboration identified mutations in the protein tyrosine phosphatase gene. Here, we examine for heterogeneity through the admixture test in 22 families and estimate the proportion of linked families to be 75 to 85%. Extremely low posterior probabilities of linkage (Wi), exclusionary LOD scores, and haplotypes identify 4 families unlikely to be linked to chromosome 6q24.

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Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy

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