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Article

Individualized antisense oligonucleotides for SCN2A-related developmental epileptic encephalopathy.

Nature medicine - 1 Aug 2026

Kim-McManus Olivia, Mignon Laurence, Douville Julie, Pu He, Parisien Catherine, Glass Sarah, Bennett C Frank, Celso Janelle, Robbins Kendall, Ung Hoameng, Olson Heather, Kingsmore Stephen F, Petrou Steven, Crooke Stanley T, Gleeson Joseph G, Berry-Kravis Elizabeth

Abstract excerpt

SCN2A variants are among the most common genetic causes of developmental and epileptic encephalopathies (DEEs), which can present with uncontrolled seizures at birth and account for 1-2% of all epileptic encephalopathies. A substantial fraction of causal variants are gain-of-function or mixed-function variants associated with increased channel open probability or greater sodium current flux. Here two parallel...

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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: 42481851
DOI: 10.1038/s41591-026-04527-y
PMCID: PMC13472884

Genes

SCN2A

Provenance

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

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