Early-onset rapidly progressive myoclonic epilepsy associated with G392R likely pathogenic variant in SERPINI1

Progressive myoclonus epilepsy (PME) associated with neuroserpinosis due to mutations in the SERPINI1 gene is a recently described neurodegenerative disorder. Neuroserpin accumulation in neuronal inclusions causes a clinical phenotype changing between severe childhood-onset PME and presenile dementia [1]. We report a 10-year-old boy who had de novo, heterozygous G392R likely pathogenic variant in the SERPINI1 with early-onset rapidly progressive myoclonic epilepsy.