Belén Miñana

This study identifies splice-switching antisense oligonucleotides that correct splicing defects in SCN8A, reducing seizures and improving survival in a mouse model of genetic epilepsy.

The paper uses deep learning to predict splicing regulatory effects and identify effective antisense oligonucleotides by analyzing systematic deletion scans of human exons.

The paper shows that mutations rarely affect the inclusion of highly-included exons, suggesting disease-causing variants are more likely to affect alternatively spliced exons with intermediate inclusion levels.