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Identification of new and common mutations in the EPM2A gene in Lafora disease

From the Division of Neurology, Departments of Paediatrics (Dr. Minassian) and Genetics (Drs. Minassian, Ianzano, and Scherer), The Hospital for Sick Children and The University of Toronto, Canada; and the Comprehensive Epilepsy Program (Dr. Delgado-Escueta), Department of Neurology and Brain Research Institute, University of California, Los Angeles School of Medicine and West Los Angeles DVA Medical Center.

Address correspondence and reprint requests to Dr. Stephen W. Scherer, Department of Genetics, The Hospital for Sick Children and The University of Toronto, 555 University Ave., Toronto, Ontario, M5G 1X8, Canada.

Lafora disease is a teenage onset progressive myoclonus epilepsy caused by mutations in the EPM2A gene. In this report, we describe new mutations within EPM2A, review the known mutations to date to identify the most common, and describe three simple tests for prenatal and carrier screening.

Key words: Lafora disease—EPM2A—Laforin—Epilepsy—Mutation—EPM2B

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