Developmental and epileptic encephalopathies (DEEs) are severe pediatric conditions, characterized by epileptic seizures, frequent epileptiform activity on electroencephalogram (EEG), and psychomotor delay or regression. Heterozygous pathogenic variants in FBXO28 gene, encoding a member of the F-box protein family involved in protein ubiquitination cause a developmental and epileptic encephalopathy type 100 (DEE100) [1,2]. So far, only 10 patients with DEE100 have been described worldwide, all presenting refractory epilepsy and severe developmental impairment.
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