Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage
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DOI: 10.1007/s00415-022-10974-7
Abstract: Lafora disease (LD) is a neurodegenerative disorder featuring action and stimulus-sensitive myoclonus, epilepsy, and cognitive deterioration. Mutations in the EPM2A/EPM2B genes classically prove causative for the disease in most cases. Since full-field electroretinogram (ffERG) may… read more here.
Keywords: dysfunction; disease stage; cones rods; disease ... See more keywords