splice-switching antisense oligonucleotides targeting SCN8A exon 5

Splice-switching antisense oligonucleotides (ASOs) targeting SCN8A exon 5 are preclinical therapeutic candidates being developed by Tufts University and the Massachusetts Institute of Technology (MIT) for the treatment of SCN8A-related developmental and epileptic encephalopathy (DEE). SCN8A encodes the alpha subunit of the voltage-gated sodium channel Nav1.6, which undergoes developmentally regulated alternative splicing of mutually exclusive exons 5N (neonatal) and 5A (adult). Pathogenic variants in these exons can cause severe pediatric epilepsies, such as infantile spasms. These splice-switching ASOs are designed to shift splicing from the mutated exon (either 5N or 5A) toward the intact, non-mutated exon, thereby restoring normal Nav1.6 channel activity, reducing seizure burden, and improving motor impairment and survival.

Other names

SCN8A exon 5 ASOsSCN-8A exon 5 ASOsSCN 8A exon 5 ASOsSCN8A exon 5 splice-switching ASOsSCN-8A exon 5 splice-switching ASOsSCN 8A exon 5 splice-switching ASOssplice-switching ASOs targeting SCN8A exon 5