Unraveling epileptogenesis mechanisms via scRNA-seq in Scn2a p.A263V mouse model
Xian Xin, Malte Stockebrand, Birgit Engeland, Dirk Isbrandt, Konstantin Khodosevich · FENS Forum 2024
Our study investigates mechanisms of epileptogenesis caused by the p.A263V mutation in the SCN2A gene using a Scn2a p.A263V mouse model. The SCN2A gene is known for its role in neurodevelopmental disorders with epileptic presentations. Our objective is to understand the molecular foundations of neonatal neuronal hyperexcitability and its evolution into adult network disruptions, employing scRNA-seq. Neonatal homozygous (hom) mice showed seizures starting around P3, with heterozygous (het) mice also exhibiting early seizures. Despite recovery in het mice, persistent network alterations were obs
ePoster · Neuroscience