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.

journal_name

Neurology

journal_title

Neurology

authors

Minassian BA,Ianzano L,Delgado-Escueta AV,Scherer SW

doi

10.1212/wnl.54.2.488

subject

Has Abstract

pub_date

2000-01-25 00:00:00

pages

488-90

issue

2

eissn

0028-3878

issn

1526-632X

journal_volume

54

pub_type

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