GeneticsbioRxivPreprint
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…·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.
2 citations