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Gene therapy for Dravet syndrome: promises and impact on disease trigger and secondary modifications

Figure 1. Comparative analysis of the transcriptomic alterations revealed by RNA-seq in DS mouse hippocampus at disease onset and chronic stage. (A) Transcriptomic data were obtained from two different studies that analyzed differential gene expression in P24 and 4-month-old DS mice, respectively, compared to age-matched WT littermates (Ctrl). After hippocampal dissection and RNA extraction, bulk RNA sequencing was performed to obtain the transcriptomic profile and identify differentially expressed genes (DEGs). (B) Venn diagrams showing overlap of downregulated genes (upper diagrams) and upregulated genes (lower diagrams) in DS vs. Ctrl hippocampi at P24 from Hawkins et al. 2019[70] and at 4 months from Valassina et al. 2022[66]. Comparative analysis of DEGs revealed 150 common downregulated genes and 230 shared upregulated genes. (C) Bar plot showing the most represented Gene Ontology (GO) categories among the shared deregulated genes. Pink bars are used for upregulated categories and light blue bars for downregulated ones. Colored bar length is set on the normalization enrichment score (NES) axis below.

Rare Disease and Orphan Drugs Journal
ISSN 2771-2893 (Online)
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