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N. Specchio · SciRah

Researcher profile · Semantic Scholar

N. Specchio

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N. Specchio — researcher profile on SciRah

h-index: 58
Works: 300
Citations: 14K

Most-cited papers

International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions
N. Specchio, E. Wirrell, I. Scheffer, R. Nabbout +15 more
2022Epilepsia889 citations Open access
Semantic Scholar
ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions
S. Zuberi, E. Wirrell, E. Yozawitz, J. Wilmshurst +16 more
2022Epilepsia823 citations Open access
Semantic Scholar
ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions
E. Hirsch, J. French, I. Scheffer, A. Bogacz +18 more
2022Epilepsia423 citations Open access
Semantic Scholar
Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions
E. Wirrell, R. Nabbout, I. Scheffer, T. Alsaadi +18 more
2022Epilepsia259 citations Open access
Semantic Scholar
International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions
K. Riney, A. Bogacz, E. Somerville, E. Hirsch +16 more
2022Epilepsia257 citations Open access
Semantic Scholar
International consensus recommendations for management of New Onset Refractory Status Epilepticus (NORSE) including Febrile Infection-Related Epilepsy Syndrome (FIRES): Summary and Clinical Tools
R. Wickstrom, O. Taraschenko, R. Dilena, E. Payne +5 more
2022Epilepsia149 citations Open access
Semantic Scholar
International consensus recommendations for management of new onset refractory status epilepticus including febrile infection‐related epilepsy syndrome: Statements and supporting evidence
R. Wickstrom, O. Taraschenko, R. Dilena, E. Payne +44 more
2022Epilepsia133 citations Open access
Semantic Scholar
Developmental and epileptic encephalopathies: recognition and approaches to care.
Sharika V. Raga, N. Specchio, S. Rheims, J. Wilmshurst
2021Epileptic disorders118 citations Open access
Semantic Scholar
Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial.
Elia M. Pestana Knight, Sam Amin, N. Bahi-buisson, T. Benke +8 more
2022Lancet Neurology105 citations Open access
Semantic Scholar
Advances in the genetics and neuropathology of tuberous sclerosis complex: edging closer to targeted therapy.
P. Curatolo, N. Specchio, E. Aronica
2022Lancet Neurology90 citations Open access
Semantic Scholar
Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy
E. Aronica, N. Specchio, M. Luinenburg, P. Curatolo
2023Brain : a journal of neurology68 citations Open access
Semantic Scholar
Updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy.
N. Specchio, R. Nabbout, E. Aronica, S. Auvin +9 more
2023European journal of paediatric neurology53 citations Open access
Semantic Scholar
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients
S. Mole, A. Schulz, E. Badoe, S. Berkovic +17 more
2020Orphanet Journal of Rare Diseases50 citations Open access
Semantic Scholar
An examination of the efficacy and safety of fenfluramine in adults, children, and adolescents with Dravet syndrome in a real‐world practice setting: A report from the Fenfluramine European Early Access Program
R. Guerrini, N. Specchio, Á. Aledo-Serrano, M. Pringsheim +8 more
2022Epilepsia Open45 citations Open access
Semantic Scholar
Fenfluramine treatment is associated with improvement in everyday executive function in preschool-aged children (<5 years) with Dravet syndrome.
K. Bishop, P. Isquith, G. Gioia, K. Knupp +10 more
2022Epilepsy & Behavior44 citations Open access
Semantic Scholar
Imbalance of Systemic Redox Biomarkers in Children with Epilepsy: Role of Ferroptosis
S. Petrillo, N. Pietrafusa, M. Trivisano, C. Calabrese +6 more
2021Antioxidants44 citations Open access
Semantic Scholar
Surgery for drug-resistant tuberous sclerosis complex-associated epilepsy: who, when, and what.
N. Specchio, Chiara Pepi, L. de Palma, R. Moavero +4 more
2021Epileptic disorders42 citations Open access
Semantic Scholar
Individualised prediction of drug resistance and seizure recurrence after medication withdrawal in people with juvenile myoclonic epilepsy: A systematic review and individual participant data meta-analysis
R. Stevelink, D. Al-Toma, F. Jansen, H. Lamberink +47 more
2022EClinicalMedicine40 citations Open access
Semantic Scholar
The epilepsy–autism spectrum disorder phenotype in the era of molecular genetics and precision therapy
N. Specchio, Valentina di Micco, M. Trivisano, A. Ferretti +1 more
2021Epilepsia40 citations
Semantic Scholar
Vagus nerve stimulation in patients with Lennox‐Gastaut syndrome: A meta‐analysis
M. Dibué, Theresa Greco, J. Spoor, Zubair Tahir +4 more
2020Acta Neurologica Scandinavica40 citations Open access
Semantic Scholar
Treatment with Cenobamate in Adult Patients with Lennox–Gastaut Syndrome: A Case Series
G. Falcicchio, S. Lattanzi, Francesco Negri, M. de Tommaso +2 more
2022Journal of Clinical Medicine36 citations Open access
Semantic Scholar
Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study.
A. Schulz, N. Specchio, E. C. de los Reyes, P. Gissen +13 more
2024Lancet Neurology35 citations
Semantic Scholar
Epilepsy Course and Developmental Trajectories in STXBP1-DEE
G. Balagura, J. Xian, A. Riva, Francesca Marchese +54 more
2022Neurology: Genetics34 citations Open access
Semantic Scholar
Fenfluramine significantly reduces day‐to‐day seizure burden by increasing number of seizure‐free days and time between seizures in patients with Dravet syndrome: A time‐to‐event analysis
J. Sullivan, N. Specchio, O. Devinsky, S. Auvin +6 more
2021Epilepsia34 citations Open access
Semantic Scholar
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
F. Tessadori, K. Duran, K. Knapp, M. Fellner +61 more
2022American Journal of Human Genetics33 citations Open access
Semantic Scholar
Seizure outcome after epilepsy surgery in tuberous sclerosis complex: Results and analysis of predictors from a multicenter study.
C. Vannicola, L. Tassi, C. Barba, C. Boniver +18 more
2021Journal of Neurological Sciences33 citations
Semantic Scholar
Outcome of Epilepsy Surgery in MRI-Negative Patients Without Histopathologic Abnormalities in the Resected Tissue
Maurits W. C. B. Sanders, Iskander Van der Wolf, F. Jansen, E. Aronica +70 more
2024Neurology32 citations Open access
Semantic Scholar
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Berardo Rinaldi, Allan Bayat, L. Zachariassen, Jiahui Sun +83 more
2023Brain : a journal of neurology32 citations Open access
Semantic Scholar
Gain of function SCN1A disease‐causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication
S. Matricardi, S. Cestèle, M. Trivisano, B. Kassabian +16 more
2023Epilepsia30 citations Open access
Semantic Scholar
Movement Disorders in Patients With Genetic Developmental and Epileptic Encephalopathies
Sterre van der Veen, Gabrielle T W Tse, A. Ferretti, Giacomo Garone +5 more
2023Neurology30 citations Open access
Semantic Scholar
Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants
Nazanin A. Mohammadi, P. Ahring, Vivian Wan Yu Liao, Chow-Chua Han +28 more
2024EBioMedicine25 citations Open access
Semantic Scholar
The expanding field of genetic developmental and epileptic encephalopathies: current understanding and future perspectives.
N. Specchio, M. Trivisano, E. Aronica, S. Balestrini +9 more
2024The Lancet Child & Adolescent Health25 citations Open access
Semantic Scholar
Cenobamate as add-on therapy for drug resistant epilepsies: effectiveness, drug to drug interactions and neuropsychological impact. What have we learned from real word evidence?
N. Pietrafusa, G. Falcicchio, Emilio Russo, S. Lattanzi +9 more
2023Frontiers in Pharmacology25 citations Open access
Semantic Scholar
Consensus statements on the information to deliver after a febrile seizure
A. Loussouarn, A. Devlin, T. Bast, G. Benoist +18 more
2021European Journal of Pediatrics25 citations
Semantic Scholar
Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations
D. Battaglia, M. Gambardella, S. Veltri, Ilaria Contaldo +13 more
2021Genes24 citations Open access
Semantic Scholar
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk
Karen L. Oliver, M. Trivisano, S. Mandelstam, Angela de Dominicis +19 more
2023Epilepsia23 citations Open access
Semantic Scholar
Is Cenobamate the Breakthrough We Have Been Wishing for?
N. Specchio, N. Pietrafusa, F. Vigevano
2021International Journal of Molecular Sciences23 citations Open access
Semantic Scholar
Juvenile myoclonic epilepsy: Long-term prognosis and risk factors.
N. Pietrafusa, A. La Neve, L. de Palma, G. Boero +3 more
2021Brain & development (Tokyo. 1979)23 citations
Semantic Scholar
Post-Traumatic Stress-Disorder in Epilepsy: Meta-analysis of current evidence.
Chiara Pepi, Mattia Mercier, Licia Salimbene, Cristina Galati +2 more
2024Epilepsy & Behavior22 citations
Semantic Scholar
Impact of the COVID‐19 lockdown on patients and families with Dravet syndrome
I. Brambilla, J. Aibar, A. Hallet, Irena Bibic +5 more
2021Epilepsia Open22 citations Open access
Semantic Scholar
The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature
Chiara Pepi, L. de Palma, M. Trivisano, N. Pietrafusa +11 more
2021Brain Science20 citations Open access
Semantic Scholar
A registry for Dravet syndrome: The Italian experience
S. Balestrini, Viola Doccini, S. Giometto, E. Lucenteforte +43 more
2023Epilepsia Open19 citations Open access
Semantic Scholar
Vaccination and childhood epilepsies.
D. Craiu, Zvonka Rener Primec, L. Lagae, F. Vigevano +6 more
2021European journal of paediatric neurology19 citations
Semantic Scholar
Is tuberous sclerosis complex-associated autism a preventable and treatable disorder?
P. Curatolo, Mirte Scheper, Leonardo Emberti Gialloreti, N. Specchio +1 more
2023World Journal of Pediatrics18 citations Open access
Semantic Scholar
CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome
N. Specchio, M. Trivisano, M. Lenge, A. Ferretti +15 more
2023Cerebral Cortex18 citations Open access
Semantic Scholar
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
Elisa Calì, Sheng-Jia Lin, C. Rocca, Y. Sahin +163 more
2022Genetics in Medicine17 citations Open access
Semantic Scholar
New paradigms for the treatment of pediatric monogenic epilepsies: Progressing toward precision medicine.
N. Specchio, N. Pietrafusa, E. Perucca, J. H. Cross
2021Epilepsy & Behavior17 citations Open access
Semantic Scholar
Fenfluramine below the age of 2 years in Dravet syndrome: What about safety and efficacy?
N. Pietrafusa, M. Trivisano, Susanna Casellato, C. Correale +7 more
2023Epilepsia16 citations Open access
Semantic Scholar
Use of cenobamate for the treatment of focal epilepsy: an Italian expert opinion paper
F. Villani, V. Cianci, C. di Bonaventura, G. Di Gennaro +8 more
2022Expert Review of Neurotherapeutics16 citations
Semantic Scholar
MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms.
M. Trivisano, Angela de Dominicis, A. Micalizzi, A. Ferretti +7 more
2022Seizure15 citations Open access
Semantic Scholar

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