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  1. Article

    Open Access

    Genotypes and phenotypes of patients with Lafora disease living in Germany

    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 epidemiolo...

    David Brenner, Tobias Baumgartner, Sarah von Spiczak in Neurological Research and Practice (2019)