Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development
De Vita, Dalila
Malformations of cortical development (MCDs) result from a disruption in the process of the human brain cortex formation: currently, there are no pharmacological treatments for diffuse MCDs. Next-generation sequencing has accelerated the identification of MCDs causing genes: in some cases, functional studies are needed to clarify the role of genetic variants. The aim of this PhD project has been to apply a multidisciplinary approach to identify causative mutations in patients with MCDs, validate the pathogenic role of the identified mutations, and assess the effectiveness of novel in vitro treatment for mTOR pathway related MCDs.
KeywordsMCDs; Epilepsy; NGS; fibroblasts; metformin
ISBN9788855183444, 9788855183437, 9788855183451
PublisherFirenze University Press
Publication date and placeFlorence, 2021
SeriesPremio Tesi di Dottorato,