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Neuroscience

D-Index
36
Citations
4644
World Ranking
9053
National Ranking
3824

Overview

Raffaella Cusmai is affiliated with Boston Children's Hospital in the United States and has contributed to research primarily in the fields of Biochemistry, Genetics and Molecular Biology, and Medicine. The scientist's work frequently intersects with subfields including Physiology, Clinical Biochemistry, Molecular Biology, Cell Biology, and Immunology.

The research topics addressed by Cusmai focus on Diet and Metabolism Studies as well as Metabolism and Genetic Disorders. Other notable areas include Glycosylation and Glycoproteins Research, Galectins and Cancer Biology, Carbohydrate Chemistry and Synthesis, Ocular Disorders and Treatments, and Connexins and Lens Biology.

Key recent papers authored or co-authored by Cusmai include the following:

  • Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function, 2020, Brain
  • The Ketogenic Diet Increases In Vivo Glutathione Levels in Patients with Epilepsy, 2020, Metabolites
  • CASK related disorder: Epilepsy and developmental outcome, 2021, European Journal of Paediatric Neurology
  • Ketogenic dietary therapies in epilepsy: recommendations of the Italian League against Epilepsy Dietary Therapy Study Group, 2023, Frontiers in Neurology
  • Ketogenic diet as elective treatment in patients with drug-unresponsive hyperinsulinemic hypoglycemia caused by glucokinase mutations, 2021, Orphanet Journal of Rare Diseases

Cusmai frequently collaborates with several researchers, including:

  • Arianna Maiorana
  • Carlo Dionisi-Vici
  • Ginevra Zanni
  • Antonio Napolitano
  • Daniela Longo

Publication venues where Cusmai's work appears reflect the interdisciplinary nature of their research involving neurology, metabolism, and rare diseases. These include Brain, European Journal of Paediatric Neurology, Frontiers in Neurology, Metabolites, and Orphanet Journal of Rare Diseases.

Best Publications

  • Role of the hypothalamic hamartoma in the genesis of gelastic fits (a video-stereo-EEG study)

    C. Munari;P. Kahane;S. Francione;D. Hoffmann

  • Doublecortin Is the Major Gene Causing X-Linked Subcortical Laminar Heterotopia (SCLH)

    Vincent Des Portes;Fiona Francis;Jean Marc Pinard;Isabelle Desguerre

  • Neuropsychiatric aspects of tuberous sclerosis.

    P. Curatolo;R. Cusmai;F. Cortesi;C. Chiron

  • Neuropsychological aspects of tuberous sclerosis in relation to epilepsy and MRI findings.

    I. Jambaqué;R. Cusmai;P. Curatolo;F. Cortesi

  • The ketogenic diet in children, adolescents and young adults with refractory epilepsy: an Italian multicentric experience.

    Giangennaro Coppola;Pierangelo Veggiotti;Raffaella Cusmai;Simona Bertoli

  • Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.

    Joseph G. Gleeson;Sharon R. Minnerath;Jeremy W. Fox;Kristina M. Allen

  • Long-term neurological outcome in children with early-onset epilepsy associated with tuberous sclerosis.

    Raffaella Cusmai;Romina Moavero;Roberta Bombardieri;Federico Vigevano

  • Topographic comparative study of magnetic resonance imaging and electroencephalography in 34 children with tuberous sclerosis.

    R. Cusmai;C. Chiron;P. Curatolo;O. Dulac

  • The idiopathic form of West syndrome

    Federico Vigevano;Lucia Fusco;Raffaella Cusmai;Dianela Claps

  • Infantile ascending hereditary spastic paralysis (IAHSP): Clinical features in 11 families

    G. Lesca;E. Eymard-Pierre;F. M. Santorelli;R. Cusmai

  • Genetic and neuroradiological heterogeneity of double cortex syndrome.

    Joseph G. Gleeson;Robert F. Luo;P. Ellen Grant;Renzo Guerrini

  • Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations

    Nicola Specchio;Carla Marini;Alessandra Terracciano;Davide Mei

  • Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.

    Carla Marini;Francesca Darra;Nicola Specchio;Davide Mei

  • Reflex Myoclonic Epilepsy in Infancy: A New Age‐Dependent Idiopathic Epileptic Syndrome Related to Startle Reaction

    Stefano Ricci;Raffaella Cusmai;Lucia Fusco;Federico Vigevano

  • West Syndrome Due to Perinatal Insults

    Raffaella Cusmai;Stefano Ricci;Jean Marc Pinard;Perrine Plouin

  • Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

    Monica Zilmer;Andrew C Edmondson;Andrew C Edmondson;Sumeet A Khetarpal;Viola Alesi

  • Levetiracetam in juvenile myoclonic epilepsy: long-term efficacy in newly diagnosed adolescents.

    Alberto Verrotti;Caterina Cerminara;Giangennaro Coppola;Emilio Franzoni

  • PCDH19-related epilepsy in two mosaic male patients

    Alessandra Terracciano;Marina Trivisano;Raffaella Cusmai;Luca De Palma

  • Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies—An Italian observational multicenter study

    P. De Liso;P. De Liso;F. Vigevano;N. Specchio;L. De Palma

  • Lacosamide in pediatric and adult patients: Comparison of efficacy and safety

    Alberto Verrotti;Giulia Loiacono;Antonella Pizzolorusso;Pasquale Parisi

  • Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia

    Raffaella Cusmai;Diego Martinelli;Romina Moavero;Carlo Dionisi Vici

Frequent Co-Authors

Federico Vigevano
Federico Vigevano Bambino Gesù Children's Hospital
Paolo Curatolo
Paolo Curatolo University of Rome Tor Vergata
Giangennaro Coppola
Giangennaro Coppola University of Salerno
Nicola Specchio
Nicola Specchio Boston Children's Hospital
Pasquale Striano
Pasquale Striano University of Genoa
Pasquale Parisi
Pasquale Parisi Sapienza University of Rome
Lucia Fusco
Lucia Fusco Bambino Gesù Children's Hospital
Giuseppe Gobbi
Giuseppe Gobbi University of Bologna
Tiziana Granata
Tiziana Granata Istituto Neurologico Carlo Besta
Giuseppe Capovilla
Giuseppe Capovilla Boston Children's Hospital

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