Mario Mastrangelo | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Estensione del fenotipo epilettico nel deficit di diidropteridina reduttasi (DHPR): una paziente con pattern tipo Lennox-Gastaut e stato di male epilettico focale dopo stroke metabolico	Lega Italiana Contro l’Epilessia – Riunione Policentrica in Epilettologia 2023	2023
Ketogenic diet in pediatric epilepsies	Diet and Nutrition in Neurological Disorders	2023
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy	AMERICAN JOURNAL OF MEDICAL GENETICS. PART A	2022
Stroke and stroke-like episodes in inborn errors of metabolism: Pathophysiological and clinical implications	MOLECULAR GENETICS AND METABOLISM	2022
PRICKLE1-Related Disorders	GENEREVIEWS	2022
PHENOTYIPING AND DIAGNOSTIC TIMING IN NGS-DIAGNOSED GENETIC DEVELOPMENTAL ENCEPHALOPATHIES WITH EPILEPSY AND MOVEMENT DISORDERS	14th European Paediatric Neurology Society Congress	2022
LOSS OF CONTINUITY OF CARE IN PEDIATRIC NEUROLOGY SERVICES DURING COVID-19 LOCKDOWN: AN ADDITIONAL STRESSOR FOR PARENTS	14th European Paediatric Neurology Society Congress	2022
Suggestive Seizure Induction technique in a pediatric PNES population related to neurocognitive and psychological profile: a pilot study.	14th European Paediatric Neurology Society Congress	2022
Loss of Continuity of Care in Pediatric Neurology Services during COVID-19 Lockdown: An Additional Stressor for Parents	CHILDREN	2022
Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency	PARKINSONISM & RELATED DISORDERS	2022
Paediatric sudden unexpected death in epilepsy: From pathophysiology to prevention	SEIZURE	2022
Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study.	FRONTIERS IN NEUROLOGY	2022
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome	GENETICS IN MEDICINE	2022
Editorial: Genetically determined epilepsies: Perspectives in the era of precision medicine	FRONTIERS IN NEUROLOGY	2022
Epilepsy in inherited neurotransmitter disorders: Spotlights on pathophysiology and clinical management.	METABOLIC BRAIN DISEASE	2021
TSC1 as a Novel Gene for Sleep-Related Hypermotor Epilepsy: A Child with a Mild Phenotype of Tuberous Sclerosis	NEUROPEDIATRICS	2021
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: data from the iNTD registry	JOURNAL OF INHERITED METABOLIC DISEASE	2021
Management of Neurological Emergencies in Children: An Updated Overview	NEUROPEDIATRICS	2021
Acute ischemic stroke in childhood: a comprehensive review	EUROPEAN JOURNAL OF PEDIATRICS	2021
Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins	MOLECULAR GENETICS AND METABOLISM	2021

ERC

Interessi di ricerca

Epilessie su base genetico-metabolica
Malattie neurogenetiche rare
Emergenze neurologiche Pediatriche

Keywords

epilepsy

clinical neurology

Children.