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-analysis of the known pathogenic variants to identify genotype-phenotype correlations.

Methods

We collected all reported cases with genetically-confirmed LD containing data on disease history. Pathogenic variants were classified into missense (MS) and protein-truncating (PT). Three genotype classes were defined according to the combination of the variants: MS/MS, MS/PT, and PT/PT. Time-to-event analysis was performed to evaluate survival and loss of autonomy.

Results

250 cases described i

SUBMITTER: Pondrelli F 

PROVIDER: S-EPMC10474773 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature