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 Citations (Scopus)

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
StatePublished - Jan 25 2000

Fingerprint

Lafora Disease
Mutation
Progressive Myoclonic Epilepsy
Genes
Prenatal Diagnosis

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.

Identification of new and common mutations in the EPM2A gene in Lafora disease. / Minassian, Berge A.; Ianzano, Leonarda; Delgado-Escueta, Antonio V.; Scherer, Stephen W.

In: Neurology, Vol. 54, No. 2, 25.01.2000, p. 488-490.

Research output: Contribution to journalArticle

Minassian, BA, Ianzano, L, Delgado-Escueta, AV & Scherer, SW 2000, 'Identification of new and common mutations in the EPM2A gene in Lafora disease', Neurology, vol. 54, no. 2, pp. 488-490.
Minassian BA, Ianzano L, Delgado-Escueta AV, Scherer SW. Identification of new and common mutations in the EPM2A gene in Lafora disease. Neurology. 2000 Jan 25;54(2):488-490.
Minassian, Berge A. ; Ianzano, Leonarda ; Delgado-Escueta, Antonio V. ; Scherer, Stephen W. / Identification of new and common mutations in the EPM2A gene in Lafora disease. In: Neurology. 2000 ; Vol. 54, No. 2. pp. 488-490.
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