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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.
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
SAGE Publications
2022
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| Materias: | |
| 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 |