Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data

BACKGROUND: Lafora disease (LD) is a fatal form of progressive myoclonic epilepsy caused by biallelic pathogenic variants in EPM2A or NHLRC1. With a few exceptions, the influence of genetic factors on disease progression has yet to be confirmed. We present a systematic review and meta-analysis of th...

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Detalles Bibliográficos
Autores principales: Pondrelli, Federica, Minardi, Raffaella, Muccioli, Lorenzo, Zenesini, Corrado, Vignatelli, Luca, Licchetta, Laura, Mostacci, Barbara, Tinuper, Paolo, Vander Kooi, Craig W., Gentry, Matthew S., Bisulli, Francesca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10474773/
https://www.ncbi.nlm.nih.gov/pubmed/37658439
http://dx.doi.org/10.1186/s13023-023-02880-6

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