Mario Mastrangelo | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
The burden of epilepsy on long-term outcome of genetic developmental and epileptic encephalopathies: A single tertiary center longitudinal retrospective cohort study	EPILEPSY & BEHAVIOR	2024
L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study	BRAIN	2024
Fenotipo epilettico e gestione terapeutica in un paziente con deficit di succinico semialdeide deidrogenasi: evoluzione dall’ infanzia all’ età adulta	Lega Italiana Contro l’Epilessia – Riunione Policentrica in Epilettologia 2024	2024
Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort study	SEIZURE	2024
CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy	JOURNAL OF NEUROLOGY	2024
The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review	EUROPEAN JOURNAL OF PEDIATRICS	2024
Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene	STEM CELL RESEARCH	2023
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism	GENES	2023
Sudden unexpected death in epilepsy: The need for age-specific evidence-based prevention	DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY	2023
Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review	CHILDREN	2023
Natural course of IQSEC2-related encephalopathy. An Italian national structured survey	CHILDREN	2023
The impact of a newly established specialized pediatric epilepsy center in Tanzania: An observational study	EPILEPSY & BEHAVIOR	2023
Clinical profiles of acute arterial ischemic neonatal stroke	MINERVA PEDIATRICS	2023
Extended Glasgow Outcome Scale to Evaluate the Functional Impairment of Patients With Subcortical Band Heterotopia: A Multicentric Cross-sectional Study	PEDIATRIC NEUROLOGY	2023
Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants	FRONTIERS IN NEUROLOGY	2023
KETOGENIC DIET IN PEDIATRIC EPILEPSIES	DIET AND NUTRITION IN NEUROLOGICAL DISORDERS,	2023
CLINICAL APPROACH TO GENETIC EPILEPSIES IN CHILDREN	COMMON PEDIATRIC DISEASES: CURRENT CHALLEGES, vol- 2.	2023
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

ERC

Interessi di ricerca

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

Keywords

epilepsy

clinical neurology

Children.