Genotypes and phenotypes of patients with Lafora disease living in Germany

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 this re...

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Detalles Bibliográficos
Autores principales: Brenner, David, Baumgartner, Tobias, von Spiczak, Sarah, Lewerenz, Jan, Weis, Roger, Grimmer, Anja, Gaspirova, Petra, Wurster, Claudia D., Kunz, Wolfram S., Wagner, Jan, Minassian, Berge A., Elger, Christian E., Ludolph, Albert C., Biskup, Saskia, Döcker, Dennis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7316188/
https://www.ncbi.nlm.nih.gov/pubmed/32587944
http://dx.doi.org/10.1186/s42466-019-0040-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7316188/
https://www.ncbi.nlm.nih.gov/pubmed/32587944
http://dx.doi.org/10.1186/s42466-019-0040-2

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