Article
Cell-Selective Adeno-Associated Virus-Mediated SCN1A Gene Regulation Therapy Rescues Mortality and Seizure Phenotypes in a Dravet Syndrome Mouse Model and Is Well Tolerated in Nonhuman Primates.
Human gene therapy - 1 Jun 2022
Tanenhaus Annie, Stowe Timothy, Young Andrew, McLaughlin John, Aeran Rangoli, Lin I Winnie, Li Jianmin, Hosur Raghavendra, Chen Ming, Leedy Jennifer, Chou Tiffany, Pillay Sirika, Vila Maria Candida, Kearney Jennifer A, Moorhead Martin, Belle Archana, Tagliatela Stephanie
Abstract excerpt
Dravet syndrome (DS) is a developmental and epileptic encephalopathy caused by monoallelic loss-of-function variants in the SCN1A gene. SCN1A encodes for the alpha subunit of the voltage-gated type I sodium channel (NaV1.1), the primary voltage-gated sodium channel responsible for generation of action potentials in GABAergic inhibitory interneurons. In these studies, we tested the efficacy of an adeno-associated...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.