A hit for base editing: treatment of developmental epilepsy in a mouse model
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.
Authors
- Ethan M. Goldberg
- Sophie F. Hill
Institutions
- Children's Hospital of Philadelphia (US)
- Pediatrics and Genetics (US)
- University of Pennsylvania (US)
Publication Details
- Journal
- Journal of Clinical Investigation
- Published
- 2026-02-01
- DOI
- https://doi.org/10.1172/jci200689
- Primary Topic
- CRISPR and Genetic Engineering
- Type
- article
- Field-Weighted Citation Impact
- 0.00