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...