Exploring the phenotypic impact of constitutive or late restoration of Nav1.1 in GABAergic neurons in a reversible mouse model of Dravet syndrome
Martina Mainardi, Claudia Di Berardino, Vania Broccoli, Gaia Colasante · FENS Forum 2024
Dravet Syndrome (DS) is a severe epileptic encephalopathy associated with a high risk of premature death caused by sudden unexpected death in epilepsy (SUDEP). The disease is caused by haploinsufficiency of SCN1A gene, encoding the alpha subunit of the voltage-gated sodium channel Nav1.1. While DS onset is triggered by interneuron (IN) hypoexcitability, alterations in glutamatergic neurons contribute to its progression. Current gene therapy strategies aim to boost SCN1A gene expression in INs, prompting this study to investigate whether targeting them alone at various disease stages is suffici
ePoster · Neuroscience