Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage

BACKGROUND: 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 revea...

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Detalles Bibliográficos
Autores principales: Orsini, Alessandro, Ferrari, Daniele, Riva, Antonella, Santangelo, Andrea, Macrì, Angelo, Freri, Elena, Canafoglia, Laura, D’Aniello, Alfredo, Di Gennaro, Giancarlo, Massimetti, Gabriele, Minetti, Carlo, Zara, Federico, Michelucci, Roberto, Tumber, Anupreet, Vincent, Ajoy, Minassian, Berge Arakel, Striano, Pasquale
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Original Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9217906/
https://www.ncbi.nlm.nih.gov/pubmed/35184210
http://dx.doi.org/10.1007/s00415-022-10974-7

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