Publications by authors named "Maria Stella Vari"

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Long-term plasma monitoring of THC and CBD in pediatric drug-resistant epilepsy: Implications for cannabidiol therapy with Epidyolex®.
Alessia Cafaro, Antonella Riva, Federica Pigliasco, Sebastiano Barco, Valentina Manca, Maria Stella Vari

Epilepsia Open· October 2025

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Lennox-Gastaut syndrome unveiled: Advancing diagnosis, therapies, and advocacy-insights from the Genoa International Workshop.
Antonella Riva, Gianluca D'Onofrio, Elisabetta Amadori, Alexis Arzimanoglou, Stéphane Auvin, Maria Stella Vari

Epilepsia· October 2025

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Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Siwei Chen, Bassel W Abou-Khalil, Zaid Afawi, Quratulain Zulfiqar Ali, Elisabetta Amadori, Maria Stella Vari

medRxiv· September 2024

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Early Developmental Intervention and Enriched Environment in CDKL5 Developmental and Epileptic Encephalopathy: A Case Report.
Martina Giorgia Perinelli, Cecilia Naboni, Ganna Balagura, Elisabetta Amadori, Maria Stella Vari

Neurol Clin Pract· June 2024

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A proposal for a shared therapeutic algorithm in children with prolonged convulsive seizures and status epilepticus.
Roberta Roberti, Antonella Riva, Gianluca D'Onofrio, Emanuele Giacheri, Elisabetta Amadori, Maria Stella Vari

Expert Rev Neurother· February 2024

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A real-life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy.
Antonella Riva, Roberta Roberti, Gianluca D'Onofrio, Maria Stella Vari, Elisabetta Amadori

Epilepsia Open· September 2023

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Current and promising therapeutic options for Dravet syndrome.
Antonella Riva, Gianluca D'Onofrio, Elisabetta Amadori, Domenico Tripodi, Ganna Balagura, Maria Stella Vari

Expert Opin Pharmacother· October 2022

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Pediatric SARS-CoV-2-Related Diplopia and Mesencephalic Abnormalities.
Sara Signa, Noemi Brolatti, Chiara Trincianti, Domenico Tortora, Carolina Saffioti, Maria Stella Vari

Neurol Clin Pract· October 2022

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Electroencephalographic findings in ATRX syndrome: A new case series and review of literature.
Salvatore Aiello, Maria Margherita Mancardi, Alfonso Romano, Margherita Santucci, Maria Cristina Scaduto, Maria Stella Vari

Eur J Paediatr Neurol· September 2022

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Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series.
Nadia Ronzano, Marcello Scala, Emanuela Abiusi, Ilaria Contaldo, Chiara Leoni, Maria Stella Vari

Seizure· August 2022

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Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Paola Borgia, Simona Baldassari, Nicoletta Pedemonte, Ebba Alkhunaizi, Gianluca D'Onofrio, Maria Stella Vari

Orphanet J Rare Dis· July 2022

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Impact and management of drooling in children with neurological disorders: an Italian Delphi consensus.
Antonella Riva, Elisabetta Amadori, Maria Stella Vari, Alberto Spalice, Vincenzo Belcastro

Ital J Pediatr· July 2022

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Acute Neurological Presentation in Children With SARS-CoV-2 Infection.
Antonella Riva, Gianluca Piccolo, Federica Balletti, Maria Binelli, Noemi Brolatti, Maria Stella Vari

Front Pediatr· July 2022

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Epilepsy Course and Developmental Trajectories in -DEE.
Ganna Balagura, Julie Xian, Antonella Riva, Francesca Marchese, Bruria Ben Zeev, Maria Stella Vari

Neurol Genet· June 2022

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An Open Retrospective Study of a Standardized Cannabidiol Based-Oil in Treatment-Resistant Epilepsy.
Francesca Marchese, Maria Stella Vari, Ganna Balagura, Antonella Riva, Vincenzo Salpietro

Cannabis Cannabinoid Res· April 2022

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Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.
Alessandro Orsini, Andrea Santangelo, Francesca Bravin, Alice Bonuccelli, Diego Peroni, Maria Stella Vari

Genes (Basel)· January 2022

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New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment.
Antonella Riva, Alice Golda, Ganna Balagura, Elisabetta Amadori, Maria Stella Vari

Front Neurol· December 2021

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Complex Neurological Phenotype Associated with a De Novo Mutation in a Boy with Intellectual Disability, Refractory Epilepsy, and Movement Disorder.
Gianluca Piccolo, Elisabetta Amadori, Maria Stella Vari, Francesca Marchese, Antonella Riva

J Pediatr Genet· September 2021

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Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.
Federico Raviglione, Sofia Douzgou, Marcello Scala, Alessia Mingarelli, Stefano D'Arrigo, Maria Stella Vari

Seizure· May 2021

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Genotype-phenotype correlations in patients with de novo pathogenic variants.
Federica Malerba, Giulio Alberini, Ganna Balagura, Francesca Marchese, Elisabetta Amadori, Maria Stella Vari

Neurol Genet· December 2020

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Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients.
Ganna Balagura, Antonella Riva, Francesca Marchese, Michele Iacomino, Francesca Madia, Maria Stella Vari

Eur J Paediatr Neurol· September 2020

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A further contribution to the delineation of epileptic phenotype in PACS2-related syndrome.
Gaetano Terrone, Francesca Marchese, Maria Stella Vari, Mariasavina Severino, Francesca Madia

Seizure· July 2020

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Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project.
Elisabetta Amadori, Marcello Scala, Giulia Sofia Cereda, Maria Stella Vari, Francesca Marchese

Ital J Pediatr· July 2020

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Bortezomib-Responsive Refractory Anti-N-Methyl-d-Aspartate Receptor Encephalitis.
Ramona Cordani, Concetta Micalizzi, Thea Giacomini, Matteo Gastaldi, Diego Franciotta, Maria Stella Vari

Pediatr Neurol· February 2020

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Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene.
Thea Giacomini, Maria Stella Vari, Sara Janis, Giulia Prato, Livia Pisciotta

Neuropediatrics· October 2019

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