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
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author Nordli, Douglas R.
Rao, Chethan K.
Delgado-Escueta, Antonio V.
Galan, Fernando
author_facet Nordli, Douglas R.
Rao, Chethan K.
Delgado-Escueta, Antonio V.
Galan, Fernando
author_sort Nordli, Douglas R.
collection PubMed
description 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.
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spelling pubmed-95374852022-10-08 A Novel Mutation in Lafora Disease and Update on Pathophysiology and Future Treatments Nordli, Douglas R. Rao, Chethan K. Delgado-Escueta, Antonio V. Galan, Fernando Child Neurol Open Case Report 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. SAGE Publications 2022-10-05 /pmc/articles/PMC9537485/ /pubmed/36211619 http://dx.doi.org/10.1177/2329048X221126361 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Report
Nordli, Douglas R.
Rao, Chethan K.
Delgado-Escueta, Antonio V.
Galan, Fernando
A Novel Mutation in Lafora Disease and Update on Pathophysiology and Future Treatments
title A Novel Mutation in Lafora Disease and Update on Pathophysiology and Future Treatments
title_full A Novel Mutation in Lafora Disease and Update on Pathophysiology and Future Treatments
title_fullStr A Novel Mutation in Lafora Disease and Update on Pathophysiology and Future Treatments
title_full_unstemmed A Novel Mutation in Lafora Disease and Update on Pathophysiology and Future Treatments
title_short A Novel Mutation in Lafora Disease and Update on Pathophysiology and Future Treatments
title_sort novel mutation in lafora disease and update on pathophysiology and future treatments
topic Case Report
url 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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