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Identification of new and common mutations in the EPM2A gene in Lafora disease
B A Minassian1, L Ianzano, A V Delgado-Escueta
1Department of Paediatrics, The Hospital for Sick Children and The University of Toronto, Ontario, Canada.
Neurology
|February 11, 2000
Abstract:
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.