Peer-reviewed veterinary case report
A hit for base editing: treatment of developmental epilepsy in a mouse model.
- Journal:
- The Journal of clinical investigation
- Year:
- 2026
- Authors:
- Hill, Sophie F & Goldberg, Ethan M
- Affiliation:
- Department of Pediatrics and.
Abstract
CRISPR/Cas9 base editing holds the potential to treat disease caused by single-nucleotide variants. In contrast with conventional CRISPR/Cas9 approaches, base editing enzymatically induces precise DNA alterations and can directly correct disease-causing variants. In this issue of JCI, Reever et al. used base editing to treat a mouse model of a severe neurodevelopmental disorder caused by a pathogenic missense variant in the voltage-gated sodium channel gene SCN8A. This work represents a starting point for the further refinement of base editing to treat genetic epilepsy.
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Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/41623178/