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

Federica PondrelliRaffaella MinardiLorenzo MuccioliCorrado ZenesiniLuca VignatelliLaura LicchettaBarbara MostacciPaolo TinuperCraig W Vander KooiMatthew S GentryFrancesca Bisulli

Published in: Orphanet journal of rare diseases (2023)

This study demonstrates the existence of prognostic genetic factors in LD, namely the genotype defined according to the functional impact of the pathogenic variants. Although the reasons why NHLRC1 genotype PT/PT is associated with a poorer prognosis have yet to be fully elucidated, it may be speculated that malin plays a pivotal role in LD pathogenesis.

Keyphrases

systematic review
copy number
genome wide
randomized controlled trial
big data
gene expression
dna methylation
machine learning
artificial intelligence