Mario Mastrangelo | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Una bambina con encefalopatia epilettica e dello sviluppo: un ruolo patogenetico per il gene PRMT8?	Lega Italiana Contro l’Epilessia – Riunione Policentrica in Epilettologia 2021	2021
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients	JOURNAL OF INHERITED METABOLIC DISEASE	2020
KCNQ2 encephalopathy manifesting with Rett-like features A follow-up into adulthood	NEUROLOGY. GENETICS	2020
Laparoscopic patch repair of a Morgagni hernia in Menkes disease	ASIAN JOURNAL OF ENDOSCOPIC SURGERY	2020
Erratum: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies (Orphanet Journal of Rare Diseases (2020) 15: 126 DOI: 10.1186/s13023-020-01379-8)	ORPHANET JOURNAL OF RARE DISEASES	2020
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies	ORPHANET JOURNAL OF RARE DISEASES	2020
Towards an evidence-based treatment of pediatric status epilepticus: still a mountain to climb.	SEIZURE	2020
Neurodevelopmental Impairment As the Main Phenotypic Hallmark Associated with the Translocation t(7;10)(7p22.3;q26.11)	JOURNAL OF PEDIATRIC GENETICS	2020
Encefalopatia epilettica correlata al gene KCNQ2: outcome a lungo termine in una paziente con 29 anni di follow-up	Lega Italiana Contro l’Epilessia – Riunione Policentrica in Epilettologia 2020	2020
Epilepsy in children with type 1 diabetes mellitus: Pathophysiological basis and clinical hallmarks.	EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY	2019
Other single-gene disorders	The causes of epilepsy common and uncommon causes in adults and children	2019
Clinical approach to neurodegenerative disorders in childhood: an updated overview.	ACTA NEUROLOGICA BELGICA	2019
Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis	MOLECULAR GENETICS AND METABOLISM REPORTS	2019
A novel developmental encephalopathy with epilepsy and hyperkinetic movement disorders associated with a deletion of the sodium channel gene cluster on chromosome 2q24.3	PARKINSONISM & RELATED DISORDERS	2019
Early Post-cooling Brain Magnetic Resonance for the Prediction of Neurodevelopmental Outcome in Newborns with Hypoxic-Ischemic Encephalopathy	JOURNAL OF PEDIATRIC NEUROSCIENCES	2019
Update on the treatment of vitamin B6 dependent epilepsies	EXPERT REVIEW OF NEUROTHERAPEUTICS	2019
Corrigendum to “Pyridoxine-5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g > A (P.·Arg116gln) mutation” [Mol. Genet. Metab. 122/1–2 (2017) 135–142]	MOLECULAR GENETICS AND METABOLISM	2018
Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.	METABOLIC BRAIN DISEASE	2018
Actual insights into treatable inborn errors of metabolism causing epilepsy	JOURNAL OF PEDIATRIC NEUROSCIENCES	2018
Successful pregnancy in a patient with l-amino acid decarboxylase deficiency. therapeutic management and clinical outcome	MOVEMENT DISORDERS CLINICAL PRACTICE	2018

ERC

Interessi di ricerca

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

Keywords

epilepsy

clinical neurology

Children.