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Biallelic Truncating Variants in SCN3B Encoding Nav Channel Subunit β3 Lead to Neurodevelopmental Phenotype with and without Epilepsy and Ataxia.

Annals of neurology - 1 Oct 2025

Routledge Nathan, Lammens Maxime, Maroofian Reza, Beland Bakht, Murphy David, Mir Asif, Ullah Zia, Alvi Javeria Reza, Sultan Tipu, Efthymiou Stephanie, Bosmans Frank, Houlden Henry

Abstract excerpt

SCN3B encodes the β3 auxiliary subunit, essential for voltage-gated Na+ (Nav) channel trafficking and gating. Although SCN3B has been associated with cardiac disorders, a link with neurodevelopmental disorders (NDD) has not been established. Using a genotype-first approach, we identified homozygous truncating variants (c.281G>A-β3W94*, c.584 + 1G>A-β3S196*) in 2 consanguineous Pakistani families, leading to...

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PMID: 40879121
DOI: 10.1002/ana.78014
PMCID: PMC12542317

Genes

SCN3B

Variants

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

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