NIH R01 · 2025
Poison exons in epilepsy and neurodevelopment
Project summary Exons in the genome that lead to the introduction of premature truncation (stop) codon and mark these transcripts as targets for nonsense-mediated decay are called poison exons (PEs). These PEs are alternatively spliced throughout mouse and human neurodevelopment and function. Moreover, genetic variants that perturb the splicing of PEs have been associated with neurodevelopmental disorders (NDDs), including epilepsy, malformations of cortical development and a pediatric neurodegenerative disorder. These exons are also targeted by antisense oligonucleotides (ASO) based therapies in active clinical trials in rare genetic epilepsies. However, the prevailing contribution of…
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