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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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| Publicado en: | Nat Rev Neurol |
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| Autores principales: | , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2018
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| Materias: | |
| 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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