Identification of new and common mutations in the EPM2A gene in Lafora disease
- 25 January 2000
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 54 (2) , 488
- https://doi.org/10.1212/wnl.54.2.488
Abstract
Article 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.Keywords
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