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

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

Abstract 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-analys...

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Main Authors: Federica Pondrelli, Raffaella Minardi, Lorenzo Muccioli, Corrado Zenesini, Luca Vignatelli, Laura Licchetta, Barbara Mostacci, Paolo Tinuper, Craig W. Vander Kooi, Matthew S. Gentry, Francesca Bisulli
Format: Article
Language:English
Published: BMC 2023-09-01
Series:Orphanet Journal of Rare Diseases
Online Access:https://doi.org/10.1186/s13023-023-02880-6

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