Publications by authors named "Viola Doccini"

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Cost-effectiveness of fenfluramine as add-on treatment in the management of Dravet Syndrome: A real-world multicenter study.
Paolo A Cortesi, Carla Fornari, Alessandra Boncristiano, Rita Facchetti, Simona Balestrini, Viola Doccini

Epilepsia Open· December 2025

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Fenfluramine treatment for Dravet syndrome: Long term real-world analysis demonstrates safety and reduced health care burden.
Alessandra Boncristiano, Simona Balestrini, Viola Doccini, Nicola Specchio, Nicola Pietrafusa

Epilepsia· April 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, Viola Doccini

medRxiv· September 2024

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A registry for Dravet syndrome: The Italian experience.
Simona Balestrini, Viola Doccini, Sabrina Giometto, Ersilia Lucenteforte, Salvatore De Masi

Epilepsia Open· June 2023

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Efficacy and Safety of Long-Term Treatment with Stiripentol in Children and Adults with Drug-Resistant Epilepsies: A Retrospective Cohort Study of 196 Patients.
Simona Balestrini, Viola Doccini, Alessandra Boncristiano, Matteo Lenge, Salvatore De Masi

Drugs Real World Outcomes· September 2022

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Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real-world study.
Nicola Specchio, Nicola Pietrafusa, Viola Doccini, Marina Trivisano, Francesca Darra

Epilepsia· November 2020

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Long-term efficacy of add-on stiripentol treatment in children, adolescents, and young adults with refractory epilepsies: A single center prospective observational study.
Anna Rosati, Alessandra Boncristiano, Viola Doccini, Alessandra Pugi, Tiziana Pisano

Epilepsia· November 2019

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Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.
Elena Cellini, Annalisa Vetro, Valerio Conti, Carla Marini, Viola Doccini

Eur J Hum Genet· June 2019

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De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.
Amanda Rogers, Paul Golumbek, Elena Cellini, Viola Doccini, Renzo Guerrini

Am J Med Genet A· August 2018

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Long-term efficacy of add-on lacosamide treatment in children and adolescents with refractory epilepsies: A single-center observational study.
Anna Rosati, Lucrezia Ilvento, Riccardo Rizzi, Viola Doccini, Maria Carmela Leo

Epilepsia· May 2018

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Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
Agatino Battaglia, Viola Doccini, Laura Bernardini, Antonio Novelli, Sara Loddo

Eur J Paediatr Neurol· November 2013

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Homozygous deletion in TUSC3 causing syndromic intellectual disability: a new patient.
Sara Loddo, Valentina Parisi, Viola Doccini, Tiziana Filippi, Laura Bernardini

Am J Med Genet A· August 2013

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6p25 interstitial deletion in two dizygotic twins with gyral pattern anomaly and speech and language disorder.
Margherita Bozza, Laura Bernardini, Antonio Novelli, Paola Brovedani, Elena Moretti, Viola Doccini

Eur J Paediatr Neurol· May 2013

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