Mario Mastrangelo

17PUBLICATIONS
90CO-AUTHORS
Infant and child healthMajor global burdens of diseaseEpigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesPharmacogenomics
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Publications (17)

|Nov 27, 2025
Cerebrospinal Fluid Neurotransmitters, Pterins, Folates and Amino Acids in Paediatric Onset Epilepsies: A Tertiary Centre Retrospective Cohort Study.

Mario Mastrangelo, Claudia Carducci, Filippo Manti

|Nov 11, 2025
Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency.

Mariya Sigatullina Bondarenko, Oya Kuseyri Hübschmann, Jan Kulhánek

|Oct 25, 2025
Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiology.

Simona Balestrini, Ilaria Galli, Maria Luisa Ricci

|Oct 23, 2025
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.

Pasquale Di Letto, Chiara De Leonibus, Francesca Pia Palmieri

|Jul 02, 2025
Developmental and Epileptic Encephalopathy as a Novel Clinical Hallmark of SCA21.

Mario Mastrangelo, Giacomina Ricciardi, Carlo Greco

|Jun 13, 2025
Genome-Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review.

Mario Mastrangelo, Simona Petrucci, Giuliana Lentini

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Frequent Collaborators

4 joint publications

Vincenzo Leuzzi

3 joint publications

Francesco Pisani

2 joint publications

Simona Balestrini

2 joint publications

Davide Mei