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
Neurologyjournal_title
Neurologyauthors
Minassian BA,Ianzano L,Delgado-Escueta AV,Scherer SWdoi
10.1212/wnl.54.2.488subject
Has Abstractpub_date
2000-01-25 00:00:00pages
488-90issue
2eissn
0028-3878issn
1526-632Xjournal_volume
54pub_type
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