M. Jamili

Functional and pharmacological characterization of the SCN2A variant p.C258R with mixed gain and loss of function causing developmental and epileptic encephalopathy type 11

Pathogenic variants in SCN2A cause dysfunction of the NaV1.2 voltage-gated sodium channel and are associated with neurodevelopmental disorders with or without epilepsy. Treatment of epilepsy in these patients is challenging and depends on whether the variant results in a gain (GoF) or loss of function (LoF). We describ...