Mario Mastrangelo

Mario Mastrangelo is an Associate Professor at Sapienza Università di Roma, working in the Department of Maternal and Child Health and Urological Sciences. He serves as a contracted lecturer for courses in Pediatric Therapy at the university and works as a Level I Medical Manager at Policlinico Umberto I in Rome, with functional assignment to the Complex Operating Unit of Child Neuropsychiatry and the Department of Neurosciences/Mental Health. His clinical work focuses on pediatric neurological disorders, particularly genetic and metabolic epilepsies.

• PhD in Clinical-Experimental Neuroscience and Psychiatry (2015-2019), Sapienza Università di Roma
• PhD in Pediatric Sciences (2009-2012), Sapienza Università di Roma
• Specialization in Pediatrics (2004-2009), Sapienza Università di Roma (70/70 with honors)
• Master's Degree in "Neurology and Neurophysiology of Pediatric Age" (2003-2005), Sapienza Università di Roma (70/70 with honors)
• Medical Degree (1997-2003), Sapienza Università di Roma (110/110 with honors)

Mario Mastrangelo's research focuses on pediatric neurological disorders with particular emphasis on genetic and metabolic forms of epilepsy. His work spans multiple areas including neurotransmitter-related disorders, inborn errors of metabolism causing neurological symptoms, and pediatric neurological emergencies. He has made significant contributions to understanding aromatic L-amino acid decarboxylase (AADC) deficiency, succinic semialdehyde dehydrogenase deficiency, and other rare genetic epilepsies. His research employs advanced genetic techniques including next-generation sequencing to characterize genotype-phenotype correlations in developmental and epileptic encephalopathies.

Dr. Mastrangelo has been instrumental in establishing international collaborations, particularly through his involvement with the International Working Group on Neurotransmitter-Related Disorders (INTD), which includes 34 centers worldwide. His work has led to the development of patient registries, clinical guidelines for neurotransmitter disorders, and multicenter studies on rare neurological conditions. His recent publications demonstrate a strong focus on expanding the phenotypic spectrum of genetic neurological disorders, developing diagnostic protocols, and evaluating treatment outcomes in pediatric epilepsy.

• Premio miglior poster per il contributo "ENCEFALITE DI RASMUSSEN" at the 31st Congress of the Italian Society of Pediatric Neurology

As an educator, Dr. Mastrangelo serves as a reviewer for multiple international journals including Acta Paediatrica, European Journal of Pediatrics, and Neuropediatrics, and is a member of the editorial boards of Frontiers in Neurology and Frontiers in Pediatrics. He has supervised numerous students in the School of Specialization in Pediatrics, the School of Specialization in Child Neuropsychiatry, and the Degree Course in Pediatric Nursing at Sapienza University. His research has been supported through multiple research grants, including contracts for studies on neurotransmitter disorders and metabolic epilepsies.

Dr. Mastrangelo is actively involved in the International Working Group on Neurotransmitter-Related Disorders (INTD), where he has contributed to constructing a patient registry that has recruited 387 patients with congenital neurotransmitter diseases. He has also been a member of the Italian Group for the Study of Corpus Callosum Anomalies, contributing to the collection of clinical data on patients with congenital corpus callosum abnormalities. His clinical work takes place at Policlinico Umberto I in Rome, where he manages patients with pediatric neurological disorders in both emergency and specialized care settings.