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Article

Distinct neuronal mechanisms for motor impairment and seizures in a novel mouse model of SCN8A epileptic encephalopathy.

Neurobiology of disease - 1 Apr 2026

Anne Midhun N K, Kakuk-Atkins Laura, Kaplan Jason, Deardorff Adam S, Hanson Meretta A, Johantges Aidan C, Marshall Alec H, Kolb Stephen J, Wester Jason C, Wagnon Jacy L

Abstract excerpt

Variants in the voltage-gated sodium channel gene SCN8A cause a severe developmental and epileptic encephalopathy (DEE) characterized by treatment-resistant seizures, developmental delay, long-term cognitive and motor impairment, and elevated risk of premature death. The most common comorbidity is motor impairment, including hypotonia, movement disorders like ataxia, and weakness. To date, mouse models of SCN8A...

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Identifiers

PMID: 41679675
DOI: 10.1016/j.nbd.2026.107317
PMCID: PMC13141817

Genes

SCN8A

Variants

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