Dravet syndrome (DS) is a devastating developmental and epileptic encephalopathy (DEE), which in most cases is caused by variants in the gene SCN1A which makes a part of the sodium channel Nav1.1. Variants in another gene called SCN1B, which makes another part of Nav1.1, are also linked to DS or to the more severe early infantile DEE. The goal of this project is to develop a gene replacement therapy for SCN1B-related DEE. Dr. Isom has already tested this approach in mice lacking this gene and obtained promising results. The team will build on these results by developing gene replacement strategies for patient-specific variants in SCN1B. If successful, this work will serve as a critical first step toward viral gene therapeutic intervention for SCN1B-related DEE.
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