Specchio, Nicola

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

Specchio, N., Wirrell, E. C., Scheffer, I. E., Nabbout, R., Riney, K., Samia, P., Guerreiro, M., Gwer, S., Zuberi, S. M., Wilmshurst, J. M., et al. (2022) · Epilepsia

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 998

ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions

Zuberi, S. M., Wirrell, E., Yozawitz, E., Wilmshurst, J. M., Specchio, N., Riney, K., Pressler, R., Auvin, S., Samia, P., Hirsch, E., et al. (2022) · Epilepsia

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 934

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Wolff, M., Johannesen, K. M., Hedrich, U. B. S., Masnada, S., Rubboli, G., Gardella, E., Lesca, G., Ville, D., Milh, M., Villard, L., et al. (2017) · Brain

Epilepsy research and treatmentIon channel regulation and function

Cited by 600

ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions

Hirsch, E., French, J., Scheffer, I. E., Bogacz, A., Alsaadi, T., Sperling, M. R., Abdulla, F., Zuberi, S. M., Trinka, E., Specchio, N., et al. (2022) · Epilepsia

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 502

Study of Intraventricular Cerliponase Alfa for CLN2 Disease

Schulz, A., Ajayi, T., Specchio, N., de Los Reyes, E., Gissen, P., Ballon, D., Dyke, J. P., Cahan, H., Slasor, P., Jacoby, D., et al. (2018) · New England Journal of Medicine

Lysosomal Storage Disorders ResearchMetabolism and Genetic Disorders

Cited by 489

Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions

Wirrell, E. C., Nabbout, R., Scheffer, I. E., Alsaadi, T., Bogacz, A., French, J. A., Hirsch, E., Jain, S., Kaneko, S., Riney, K., et al. (2022) · Epilepsia

Epilepsy research and treatmentDiet and metabolism studies

Cited by 296

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

Riney, K., Bogacz, A., Somerville, E., Hirsch, E., Nabbout, R., Scheffer, I. E., Zuberi, S. M., Alsaadi, T., Jain, S., French, J., et al. (2022) · Epilepsia

Epilepsy research and treatmentTuberous Sclerosis Complex Research

Cited by 287

The phenotypic spectrum of SCN8A encephalopathy

Larsen, J., Carvill, G. L., Gardella, E., Kluger, G., Schmiedel, G., Barisic, N., Depienne, C., Brilstra, E., Mang, Y., Nielsen, J. E. K., et al. (2015) · Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 285

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

Carvill, G. L., McMahon, J. M., Schneider, A., Zemel, M., Myers, C. T., Saykally, J., Nguyen, J., Robbiano, A., Zara, F., Specchio, N., et al. (2015) · The American Journal of Human Genetics

Epilepsy research and treatmentNeuroscience and Neuropharmacology Research

Cited by 227

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

Knight, E. M. P., Amin, S., Bahi-Buisson, N., Benke, T. A., Cross, J. H., Demarest, S. T., Olson, H. E., Specchio, N., Fleming, T. R., Aimetti, A. A., et al. (2022) · The Lancet Neurology

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 160

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex

Bahi-Buisson, N., Poirier, K., Boddaert, N., Fallet-Bianco, C., Specchio, N., Bertini, E., Caglayan, O., Lascelles, K., Elie, C., Rambaud, J., et al. (2010) · Brain

Fetal and Pediatric Neurological DisordersGenetics and Neurodevelopmental Disorders

Cited by 144

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

Burgess, R., Wang, S., McTague, A., Boysen, K. E., Yang, X., Zeng, Q., Myers, K. A., Rochtus, A., Trivisano, M., Gill, D., et al. (2019) · Annals of Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 141

Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy

Aronica, E., Specchio, N., Luinenburg, M. J., & Curatolo, P. (2023) · Brain

Tuberous Sclerosis Complex ResearchEpilepsy research and treatment

Cited by 74

Updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy

Specchio, N., Nabbout, R., Aronica, E., Auvin, S., Benvenuto, A., de Palma, L., Feucht, M., Jansen, F., Kotulska, K., Sarnat, H., et al. (2023) · European Journal of Paediatric Neurology

Tuberous Sclerosis Complex ResearchEpilepsy research and treatment

Cited by 58

Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real‐world study

Specchio, N., Pietrafusa, N., Doccini, V., Trivisano, M., Darra, F., Ragona, F., Cossu, A., Spolverato, S., Battaglia, D., Quintiliani, M., et al. (2020) · Epilepsia

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 56

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

Guerrini, R., Specchio, N., Aledo‐Serrano, Á., Pringsheim, M., Darra, F., Mayer, T., Gil‐Nagel, A., Polster, T., Zuberi, S. M., Lothe, A., et al. (2022) · Epilepsia Open

Epilepsy research and treatmentDiet and metabolism studies

Cited by 45

Fenfluramine treatment is associated with improvement in everyday executive function in preschool-aged children (<5 years) with Dravet syndrome: A critical period for early neurodevelopment

Bishop, K. I., Isquith, P. K., Gioia, G. A., Knupp, K. G., Scheffer, I. E., Nabbout, R., Specchio, N., Sullivan, J., Auvin, S., Helen Cross, J., et al. (2023) · Epilepsy & Behavior

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 43

Movement Disorders in Patients With Genetic Developmental and Epileptic Encephalopathies

van der Veen, S., Tse, G. T. W., Ferretti, A., Garone, G., Post, B., Specchio, N., Fung, V. S. C., Trivisano, M., & Scheffer, I. E. (2023) · Neurology

Epilepsy research and treatmentDeep Brain Stimulation and Movement Disorders

Cited by 32

Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants

Mohammadi, N. A., Ahring, P. K., Yu Liao, V. W., Chua, H. C., Ortiz de la Rosa, S., Johannesen, K. M., Michaeli-Yossef, Y., Vincent-Devulder, A., Meridda, C., Bruel, A.-L., et al. (2024) · eBioMedicine

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 27

WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk

Oliver, K. L., Trivisano, M., Mandelstam, S. A., De Dominicis, A., Francis, D. I., Green, T. E., Muir, A. M., Chowdhary, A., Hertzberg, C., Goldhahn, K., et al. (2023) · Epilepsia

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 23

A registry for Dravet syndrome: The Italian experience

Balestrini, S., Doccini, V., Giometto, S., Lucenteforte, E., De Masi, S., Giarola, E., Brambilla, I., Pieroni, F., Perulli, M., Battaglia, D., et al. (2023) · Epilepsia Open

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 21