Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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.
Originalsprog | Engelsk |
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Tidsskrift | Epilepsia |
Vol/bind | 51 |
Udgave nummer | 9 |
Sider (fra-til) | 1691-8 |
Antal sider | 8 |
ISSN | 0013-9580 |
DOI | |
Status | Udgivet - 1 sep. 2010 |
ID: 34057039