Genotypes and phenotypes of patients with Lafora disease living in Germany

Genotypes and phenotypes of patients with Lafora disease living in Germany

Abstract Background Lafora progressive myoclonus epilepsy (Lafora disease) is a rare, usually childhood-onset, fatal neurodegenerative disease caused by biallelic mutations in EPM2A (Laforin) or EPM2B (NHLRC1; Malin). The epidemiology of Lafora disease in Germany is largely unknown. The objective of...

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Main Authors: David Brenner, Tobias Baumgartner, Sarah von Spiczak, Jan Lewerenz, Roger Weis, Anja Grimmer, Petra Gaspirova, Claudia D. Wurster, Wolfram S. Kunz, Jan Wagner, Berge A. Minassian, Christian E. Elger, Albert C. Ludolph, Saskia Biskup, Dennis Döcker
Format: Article
Language:English
Published: BMC 2019-11-01
Series:Neurological Research and Practice
Online Access:http://link.springer.com/article/10.1186/s42466-019-0040-2

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http://link.springer.com/article/10.1186/s42466-019-0040-2

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