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

doi:10.1212/wnl.54.2.488

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 journal › Article › peer-review

38 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 language	English (US)
Pages (from-to)	488-490
Number of pages	3
Journal	Neurology
Volume	54
Issue number	2
DOIs	https://doi.org/10.1212/wnl.54.2.488
State	Published - Jan 25 2000

Keywords

EPM2A Laforin
EPM2B
Epilepsy
Lafora disease
Mutation

ASJC Scopus subject areas

Clinical Neurology

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10.1212/wnl.54.2.488

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title = "Identification of new and common mutations in the EPM2A gene in Lafora disease",

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 = "EPM2A Laforin, EPM2B, Epilepsy, Lafora disease, Mutation",

author = "Minassian, {Berge A.} and Leonarda Ianzano and Delgado-Escueta, {Antonio V.} and Scherer, {Stephen W.}",

year = "2000",

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AU - Minassian, Berge A.

AU - Ianzano, Leonarda

AU - Delgado-Escueta, Antonio V.

AU - Scherer, Stephen W.

PY - 2000/1/25

Y1 - 2000/1/25

N2 - 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.

AB - 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.

KW - EPM2A Laforin

KW - EPM2B

KW - Epilepsy

KW - Lafora disease

KW - Mutation

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ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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