Characterisation of CASPR2 deficiency disorder-a syndrome involving autism, epilepsy and language impairment P Rodenas-Cuadrado, N Pietrafusa, T Francavilla, A La Neve, P Striano, ... BMC medical genetics 17, 1-7, 2016 | 86 | 2016 |
Claustrum damage and refractory status epilepticus following febrile illness S Meletti, J Slonkova, I Mareckova, G Monti, N Specchio, P Hon, ... Neurology 85 (14), 1224-1232, 2015 | 71 | 2015 |
Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease N Specchio, M Bellusci, N Pietrafusa, M Trivisano, L de Palma, ... Epilepsia 58 (8), 1380-1388, 2017 | 67 | 2017 |
New‐onset refractory status epilepticus and febrile infection‐related epilepsy syndrome N Specchio, N Pietrafusa Developmental Medicine & Child Neurology 62 (8), 897-905, 2020 | 66 | 2020 |
Autism and epilepsy in patients with tuberous sclerosis complex N Specchio, N Pietrafusa, M Trivisano, R Moavero, L De Palma, A Ferretti, ... Frontiers in Neurology 11, 639, 2020 | 53 | 2020 |
Changing times for CLN2 disease: the era of enzyme replacement therapy N Specchio, N Pietrafusa, M Trivisano Therapeutics and clinical risk management, 213-222, 2020 | 52 | 2020 |
Defining the electroclinical phenotype and outcome of PCDH19‐related epilepsy: A multicenter study M Trivisano, N Pietrafusa, A Terracciano, C Marini, D Mei, F Darra, ... Epilepsia 59 (12), 2260-2271, 2018 | 51 | 2018 |
Neuronal ceroid lipofuscinosis: potential for targeted therapy N Specchio, A Ferretti, M Trivisano, N Pietrafusa, C Pepi, C Calabrese, ... Drugs 81, 101-123, 2021 | 49 | 2021 |
Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series S Partemi, MC Vidal, P Striano, O Campuzano, C Allegue, M Pezzella, ... International journal of legal medicine 129, 495-504, 2015 | 46 | 2015 |
Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real‐world study N Specchio, N Pietrafusa, V Doccini, M Trivisano, F Darra, F Ragona, ... Epilepsia 61 (11), 2405-2414, 2020 | 45 | 2020 |
Cannabidiol treatment for refractory epilepsies in pediatrics U Raucci, N Pietrafusa, MC Paolino, G Di Nardo, MP Villa, P Pavone, ... Frontiers in Pharmacology 11, 586110, 2020 | 40 | 2020 |
PCDH19-related epilepsy and Dravet syndrome: face-off between two early-onset epilepsies with fever sensitivity M Trivisano, N Pietrafusa, V di Ciommo, S Cappelletti, L de Palma, ... Epilepsy Research 125, 32-36, 2016 | 38 | 2016 |
Outcome after hemispherotomy in patients with intractable epilepsy: comparison of techniques in the Italian experience L de Palma, N Pietrafusa, F Gozzo, C Barba, G Carfi-Pavia, M Cossu, ... Epilepsy & Behavior 93, 22-28, 2019 | 34 | 2019 |
Mutation of CHRNA2 in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsy M Trivisano, A Terracciano, T Milano, S Cappelletti, N Pietrafusa, ... Epilepsia 56 (5), e53-e57, 2015 | 34 | 2015 |
Impact of COVID-19 pandemic on pediatric patients with epilepsy–The caregiver perspective M Trivisano, N Specchio, N Pietrafusa, C Calabrese, A Ferretti, R Ricci, ... Epilepsy & Behavior 113, 107527, 2020 | 32 | 2020 |
Purified cannabidiol for treatment of refractory epilepsies in pediatric patients with developmental and epileptic encephalopathy N Pietrafusa, A Ferretti, M Trivisano, L De Palma, C Calabrese, ... Pediatric Drugs 21, 283-290, 2019 | 28 | 2019 |
Results from an Italian expanded access program on cannabidiol treatment in highly refractory Dravet syndrome and Lennox–Gastaut syndrome LF Iannone, G Arena, D Battaglia, F Bisulli, P Bonanni, A Boni, ... Frontiers in neurology 12, 673135, 2021 | 27 | 2021 |
Imbalance of systemic redox biomarkers in children with epilepsy: role of ferroptosis S Petrillo, N Pietrafusa, M Trivisano, C Calabrese, F Saura, MG Gallo, ... Antioxidants 10 (8), 1267, 2021 | 26 | 2021 |
Source of cannabinoids: what is available, what is used, and where does it come from? N Specchio, N Pietrafusa, HJ Cross Epileptic Disorders 22, S1-S9, 2020 | 25 | 2020 |
Individualised prediction of drug resistance and seizure recurrence after medication withdrawal in people with juvenile myoclonic epilepsy: a systematic review and individual … R Stevelink, D Al-Toma, FE Jansen, HJ Lamberink, AA Asadi-Pooya, ... EClinicalMedicine 53, 2022 | 23 | 2022 |