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

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05 Nov 2026 0 comments

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 functional consequences of the SCN2A-E430A variant, we generated the novel Scn2a^(E430A) mouse model and assessed neuronal excitability, brain activity, seizure susceptibility, and...