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.
|Original language||English (US)|
|Number of pages||3|
|Publication status||Published - Jan 25 2000|
- EPM2A Laforin
- Lafora disease
ASJC Scopus subject areas
- Clinical Neurology