Fig. 3

Olig2-positive cells and heterotopic neurons carry the pathogenic variants. a Cell populations were isolated by laser capture microdissection (LCM) based on their morphology. Droplet digital PCR (ddPCR) was used to detect the SLC35A2 variant in pools of cells. b Barplot representing mean variant allele frequencies (VAF, in percentage) detected by ddPCR in SLC35A2-MOGHE patient FR-2 according to cell subtypes. The ddPCR experiment was performed in separate pools of cells per each category (4 × 250 cortical neurons, 3 × 250 glial cells, 3 × 70 heterotopic neurons and 2 pools of 250 and 500 Olig2-positive cells). Error bars represent the standard deviation. Bulk: whole brain tissue; Glial: glial cells; Glial-Olig2 + : Olig2-positive cells from clusters; Cortical neurons: neurons dissected from the grey matter; Heterotopic neurons: neurons dissected from the white matter