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Article

Base editing rescues seizures and sudden death in a SCN8A mutation-associated developmental epileptic encephalopathy model.

The Journal of clinical investigation - 2 Feb 2026

Reever Caeley M, Boscia Alexis R, Deutsch Tyler Cj, Patel Mansi P, Miralles Raquel M, Kittur Shrinidhi, Fleischel Erik J, Buo Atum Ml, Yorek Matthew S, Meisler Miriam H, Farber Charles R, Patel Manoj K

Abstract excerpt

SCN8A encodes the voltage-gated sodium channel Nav1.6, which plays a key role in facilitating neuronal excitability. Mutations in SCN8A, particularly gain-of-function variants, cause SCN8A developmental and epileptic encephalopathy (DEE), a severe epilepsy syndrome characterized by seizures, cognitive dysfunction, movement disorders, and sudden unexpected death in epilepsy (SUDEP). The recurrent SCN8A variant...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 41623181
DOI: 10.1172/JCI196402
PMCID: PMC12871382

Genes

SCN8A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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