Researchers identify mechanisms in rare childhood epilepsy

Researchers led by Gemma Carvill have identified new mechanisms in Dravet syndrome, a rare childhood epilepsy. Their study, published in JCI Insight, highlights potential therapeutic targets related to genetic variants in the SCN1A gene. The team discovered that these variants affect "poison exons," disrupting gene expression and protein levels. They developed synthetic DNA strands to target these exons, successfully reducing their presence in genetic transcripts. Future research will focus on applying this method to human adult brain tissue to find more poison exons in Dravet syndrome and other neurological disorders.