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...
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 |
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Format: | Article |
Language: | English |
Published: |
BMC
2023-09-01
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Series: | Orphanet Journal of Rare Diseases |
Online Access: | https://doi.org/10.1186/s13023-023-02880-6 |
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