A Novel Mutation in Lafora Disease and Update on Pathophysiology and Future Treatments

Lafora disease is a rare refractory epilepsy that results in death. This report highlights two cases of lafora disease and introduces a novel mutation in the patients. A review of the pathophysiology and future therapies is reviewed.

Detalles Bibliográficos
Autores principales: Nordli, Douglas R., Rao, Chethan K., Delgado-Escueta, Antonio V., Galan, Fernando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9537485/
https://www.ncbi.nlm.nih.gov/pubmed/36211619
http://dx.doi.org/10.1177/2329048X221126361

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9537485/
https://www.ncbi.nlm.nih.gov/pubmed/36211619
http://dx.doi.org/10.1177/2329048X221126361

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