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Article

Voltage-gated Na+ channel β1B: a secreted cell adhesion molecule involved in human epilepsy.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 12 Oct 2011

Patino Gustavo A, Brackenbury William J, Bao Yangyang, Lopez-Santiago Luis F, O'Malley Heather A, Chen Chunling, Calhoun Jeffrey D, Lafrenière Ron G, Cossette Patrick, Rouleau Guy A, Isom Lori L

Abstract excerpt

Scn1b-null mice have a severe neurological and cardiac phenotype. Human mutations in SCN1B result in epilepsy and cardiac arrhythmia. SCN1B is expressed as two developmentally regulated splice variants, β1 and β1B, that are each expressed in brain and heart in rodents and humans. Here, we studied the structure and function of β1B and investigated a novel human SCN1B epilepsy-related mutation (p.G257R) unique to...

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Identifiers

PMID: 21994374
DOI: 10.1523/JNEUROSCI.0361-11.2011
PMCID: PMC3212034

Genes

SCN1B

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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