Article

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

2023-05-18

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Lafora disease (LD) is a fatal form of progressive myoclonic epilepsy caused by biallelic pathogenic variants in <italic>EPM2A</italic> or <italic>NHLRC1</italic>. 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 the known pathogenic variants to identify ge...

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Literature Corpus work: ac67d292-7268-54d5-acb9-9ba15326c72c
DOI: 10.21203/rs.3.rs-2845960/v1

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