eIF5A and hypusination-related disorders: literature review and case report of DOHH-related encephalopathy - Beltrán-Corbellini, Álvaro; Valls-Carbó, Adrián; Toledano, Rafael; García-Morales, Irene; Sánchez-Miranda Román, Irene; Gil-Nagel, Antonio (Journal of neurodevelopmental disorders, 2025)
Keywords: Anticonvulsants; Biomedical and Life Sciences; Biomedicine; Brain Diseases - genetics; Child, Preschool; Craniofacial dysostosis; Developmental and epileptic encephalopathy; DHPS; DOHH; EIF5A; Encephalopathy; Enzymes; Epilepsy; Eukaryotic translation factors; Eukaryotic Translation Initiation Factor 5A; Female; Health aspects; Human Genetics; Humans; Lysine - analogs & derivatives; Male; Mixed Function Oxygenases - genetics; Neurology; Neuropsychology; Neurosciences; Oxidoreductases Acting on CH-NH Group Donors - genetics; Pediatrics; Peptide Initiation Factors - genetics; Psychiatry; Refractory epilepsy; Review; RNA-Binding Proteins - genetics; Seizures (Medicine); EIF5A; Refractory epilepsy; Febrile seizures; DHPS; Dravet syndrome; Eukaryotic translation factors; Fenfluramine; Developmental and epileptic encephalopathy; DOHH