Michela Barbaro

We identify female sex as a novel potential prognostic factor for receiving a genetic diagnosis. Reanalysis of WGS data in a subset of unsolved individuals yielded a diagnosis in nearly one quarter of those reanalyzed. A multidisciplinary and collaborative workflow is central to successfully implement WGS in a clinical setting. Suspected genetic epilepsies frequently present with complex and broad phenotypes.

Abstract Loss-of-function variants in the PRKN gene encoding the ubiquitin E3 ligase PARKIN cause autosomal recessive early-onset Parkinson’s disease (PD). Extensive in vitro and in vivo studies have reported that PARKIN is involved in multiple pathways of mitochondrial quality control, including mitochondrial degradation and biogenesis. However, these findings are surrounded by substantial controversy due to conflicting experimental data.