Researchers in the laboratory of Dr. Gemma Carvill at Northwestern University have uncovered new insights into Dravet syndrome, a rare and severe form of childhood epilepsy. Their findings, published in JCI Insight, reveal previously unknown genetic mechanisms that could open the door to promising new treatments.

Dravet syndrome is caused by mutations in the SCN1A gene, leading to frequent and prolonged seizures as well as developmental delays. Many patients do not respond well to existing anti-seizure medications, highlighting the urgent need for gene-targeted therapies.

Dr. Sheng Tang, a postdoctoral fellow and lead author of the study, and his team examined neurons derived from patient stem cells and discovered that some mutations occur in unexpected regions of the SCN1A gene. These mutations disrupt normal gene expression by interfering with "poison exons"—genetic sequences that can impair protein function.

Using advanced RNA sequencing, the team identified these poison exons and successfully tested antisense oligonucleotides, a type of synthetic DNA therapy, to reduce their harmful effects. Their findings expand the number of potential genetic targets for treatment, offering hope for a more precise, gene-based approach to managing Dravet syndrome.

Source: https://news.feinberg.northwestern.edu/2025/03/13/uncovering-new-therapeutic-targets-for-pediatric-epilepsy/