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

Berge A. Minassian, Leonarda Ianzano, Antonio V. Delgado-Escueta, Stephen W. Scherer

Research output: Contribution to journalArticle

33 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)488-490
Number of pages3
JournalNeurology
Volume54
Issue number2
Publication statusPublished - Jan 25 2000

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Keywords

  • Epilepsy
  • EPM2A Laforin
  • EPM2B
  • Lafora disease
  • Mutation

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Minassian, B. A., Ianzano, L., Delgado-Escueta, A. V., & Scherer, S. W. (2000). Identification of new and common mutations in the EPM2A gene in Lafora disease. Neurology, 54(2), 488-490.