ArticleNeurobiology of disease2026
Distinct neuronal mechanisms for motor impairment and seizures in a novel mouse model of SCN8A epileptic encephalopathy.
Article in Neurobiology of disease, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
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 DEE have recapitulated seizures and early death, but have not exhibited motor impairment. We developed a novel conditional mouse model of SCN8A DEE with the patient mutation p.Thr767Ile (T767I). Ubiquitous expression of the T767I allele with Sox2-Cre (Scn8a
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