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Erin E. Corbett

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Open access Sep 2026

Elevated neuronal excitability and seizure susceptibility in a mouse model of SCN2A-related developmental and epileptic encephalopathy

Pathogenic variants in SCN2A cause a spectrum of neurodevelopmental disorders, including developmental and epileptic encephalopathies (DEE). The patient-associated SCN2A-p.E430A variant selectively shifts voltage-dependence of activation, a mechanism predicted to enhance neuronal excitability. To investigate the functi...

N. Hawkins, Dennis M. Echevarria-Cooper, Erin E. Corbett et al. · 0 citations

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