Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of an SCN1A poison exon in epilepsy
Hannah C. Happ, Patricia N. Schneider, Jung Hwa Hong, Eleanor Goes, Masha D Bandouil, Carina G Biar, Aishwarya Ramamurthy, Fairlie Reese, Krysta L. Engel, Sarah Weckhuysen, Ingrid Eileen Scheffer, Heather C. Mefford, Jeffrey Dennis Calhoun, Gemma L. Carvill
The paper investigates how SCN1A variants in a poison exon cause aberrant splicing, reduced Nav1.1 protein, and epilepsy through RBP interactions.
bioRxiv · May 4, 2023 · PreprintGenetics