Single nuclei transcriptome analysis of focal malformations of cortical development

Pathogenetic variants in SLC35A2, coding for the major Golgi‐localized UDP‐galactose transporter required for protein and sphingolipid glycosylation, have been associated with Mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy (MOGHE), a recently recognized, highly epileptogenic, distinct histopathological entity in drug resistant epilepsy. During the frame of this thesis, we developed a single nuclei RNA sequencing protocol, using the 10X Chromium platform to investigate how individual subtypes of cells are affected, by somatic mutations in the SLC35A2.