Francesco Fortunato

Sex-related structural alterations across common epilepsies: a worldwide ENIGMA study

This study examines sex differences in structural brain alterations in common epilepsies using neuroimaging data from a large international cohort, finding some regional differences but no significant sex-by-diagnosis interactions.

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

This study identifies shared and distinct ultra-rare genetic risk factors for epilepsy subtypes using whole-exome sequencing of 20,979 patients and 33,444 controls.

Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy

Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study

This study identifies subregional cerebellar atrophy patterns in epilepsy syndromes using MRI data from 1,602 patients and 1,022 controls, finding significant volume loss in posterior lobe regions.

TM6SF2/PNPLA3/MBOAT7 loss-of-function genetic variants impact on NAFLD development and progression both in patients and in in vitro models

The paper investigates the combined effect of three genetic variants on NAFLD progression in patients and in vitro models, finding increased HCC risk and altered lipid and mitochondrial metabolism.