Authors :
Presenting Author: Simona Giorgi, PhD – Dravet Syndrome Foundation Spain
David Alarcón-Alarcón, PhD – Universidad Europea; Dravet Syndrome Foundation Spain
Ana Cantó-Martínez, BS – Dravet Syndrome Foundation Spain
Verónica Rivero-Hernández, PhD – Dravet Syndrome Foundation Spain
Victoria Ros-Castelló, MD – Hospital Sant Pau, Barcelona, Spain
Eulalia Turón-Viñas, MD – Hospital Sant Pau, Barcelona, Spain
Susana Boronat, MD – Hospital Sant Pau, Barcelona, Spain
José Ángel Aibar, BS – Dravet Syndrome Foundation Spain
Rationale:
Dravet syndrome (DS) is a developmental and epileptic encephalopathy. 80% of people affected present loss-of-function mutations in the SCN1A gene, encoding the sodium ion channel Nav1.1. This project aims to advance the understanding of the molecular bases of DS in humans to identify better therapeutic targets and new biomarkers for DS.
Methods:
Peripheral blood samples were analysed from 21 people with DS (aged 4-44 years; 42.9% female) and 17 healthy controls (aged 3-42 years; 64.7% female). Total RNA was extracted and sequenced with Illumina NovaSeq 6000. Demultiplexing was performed using Illumina bcl2fastq, and trimmed reads were aligned to the hg19cegat genome using STAR. Differential gene expression was analysed using DESeq2. Differentially expressed genes (DEGs) were identified using a fold-change ≥│1.1│ and a p-value < 0.05. A heatmap of the 100 DEGs (fold change ≥│1.5│; p-value < 0.05), that were among the most differentially expressed genes, was generated using K-means clustering. Gene set enrichment analysis was performed using multiple databases.