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Article

Prime editing of a pathogenic Scn1a allele ameliorates seizure phenotypes in a GEFS+ mouse model.

Science translational medicine - 13 May 2026

Kissling Lucas, Pietrafesa Francesca, Ranucci Matteo, Böck Desirée, Mathis Nicolas, Kulcsár Péter István, Ioannidi Eleonora, Schmidheini Lukas, Tálas András, Villiger Elina, Wildner Hendrik, Zhao Xinyue, Kompotis Konstantinos, Zeilhofer Hanns Ulrich, Schwank Gerald

Abstract excerpt

Generalized epilepsy with febrile seizures plus (GEFS+) is an inherited epileptic disorder predominantly linked to autosomal-dominant, loss-of-function mutations in the sodium voltage-gated channel α subunit 1 (SCN1A) gene, which encodes the α subunit of the neuronal voltage-gated sodium ion channel type 1 (NaV1.1). Reduced NaV1.1 function in γ-aminobutyric acid (GABA)-ergic interneurons impairs inhibitory...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42127217
DOI: 10.1126/scitranslmed.adz2557
PMCID: PMC7619256

Genes

SCN1A

Variants

Provenance

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

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