In conclusion, we report a genotypic and phenotypic expansion of GOSR2-associated NS-PME in a patient with early-onset disease and refractory epilepsy likely due to disrupted interaction with the COPII-coated vesicle machinery, and another patient with disease onset during adolescence, seizure remission on levetiracetam, and retained cognitive function during the third decade of life. This evidence concerns the gene GOSR2 and Netherton syndrome.