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Lafora disease — from pathogenesis to treatment strategies

Lafora disease is a severe, autosomal recessive, progressive myoclonus epilepsy. The disease usually manifests in previously healthy adolescents, and death commonly occurs within 10 years of symptom onset. Lafora disease is caused by loss-of-function mutations in EPM2A or NHLRC1, which encode lafori...

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Detalles Bibliográficos
Publicado en:Nat Rev Neurol
Autores principales: Nitschke, Felix, Ahonen, Saija J., Nitschke, Silvia, Mitra, Sharmistha, Minassian, Berge A.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2018
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6317072/
https://ncbi.nlm.nih.gov/pubmed/30143794
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41582-018-0057-0
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