Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease
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Lafora disease (LD) is an autosomal recessive form of progressive myoclonus epilepsy with onset in childhood or adolescence and with fatal outcome caused by mutations in two genes: EPM2A and NHLRC1. The aim of this study was to characterize the mutation spectrum in a cohort of unrelated patients with presumed LD.
Original language | English |
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Journal | Epilepsia |
Volume | 51 |
Issue number | 9 |
Pages (from-to) | 1691-8 |
Number of pages | 8 |
ISSN | 0013-9580 |
DOIs | |
Publication status | Published - 1 Sep 2010 |
ID: 34057039