Nabbout, Rima

Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome

Devinsky, O., Cross, J. H., Laux, L., Marsh, E., Miller, I., Nabbout, R., Scheffer, I. E., Thiele, E. A., & Wright, S. (2017) · New England Journal of Medicine

Epilepsy research and treatmentCannabis and Cannabinoid Research

Cited by 1,711

Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

Northrup, H., Krueger, D. A., Northrup, H., Krueger, D. A., Roberds, S., Smith, K., Sampson, J., Korf, B., Kwiatkowski, D. J., Mowat, D., et al. (2013) · Pediatric Neurology

Tuberous Sclerosis Complex ResearchGenetic and rare skin diseases.

Cited by 1,502

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

Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study

French, J. A., Lawson, J. A., Yapici, Z., Ikeda, H., Polster, T., Nabbout, R., Curatolo, P., de Vries, P. J., Dlugos, D. J., Berkowitz, N., et al. (2016) · The Lancet

Tuberous Sclerosis Complex ResearchEpilepsy research and treatment

Cited by 764

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

Barcia, G., Fleming, M. R., Deligniere, A., Gazula, V.-R., Brown, M. R., Langouet, M., Chen, H., Kronengold, J., Abhyankar, A., Cilio, R., et al. (2012) · Nature Genetics

Epilepsy research and treatmentIon channel regulation and function

Cited by 525

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

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

Tuberous Sclerosis registry to increase disease Awareness (TOSCA): baseline data on 2093 patients

on behalf of TOSCA consortium and TOSCA investigators, Kingswood, J. C., d’Augères, G. B., Belousova, E., Ferreira, J. C., Carter, T., Castellana, R., Cottin, V., Curatolo, P., Dahlin, M., et al. (2017) · Orphanet Journal of Rare Diseases

Tuberous Sclerosis Complex ResearchGenetic and rare skin diseases.

Cited by 267

Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrome Receiving Stiripentol-Inclusive Regimens: A Randomized Clinical Trial

Nabbout, R., Mistry, A., Zuberi, S., Villeneuve, N., Gil-Nagel, A., Sanchez-Carpintero, R., Stephani, U., Laux, L., Wirrell, E., Knupp, K., et al. (2020) · JAMA Neurology

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 251

International consensus on diagnosis and management of Dravet syndrome

Wirrell, E. C., Hood, V., Knupp, K. G., Meskis, M. A., Nabbout, R., Scheffer, I. E., Wilmshurst, J., & Sullivan, J. (2022) · Epilepsia

Epilepsy research and treatmentDiet and metabolism studies

Cited by 249

SCN1A‐related phenotypes: Epilepsy and beyond

Scheffer, I. E., & Nabbout, R. (2019) · Epilepsia

Epilepsy research and treatmentIon channel regulation and function

Cited by 245

Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendations

Curatolo, P., Nabbout, R., Lagae, L., Aronica, E., Ferreira, J. C., Feucht, M., Hertzberg, C., Jansen, A. C., Jansen, F., Kotulska, K., et al. (2018) · European Journal of Paediatric Neurology

Tuberous Sclerosis Complex ResearchEpilepsy research and treatment

Cited by 190

Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome: A Randomized Clinical Trial

Knupp, K. G., Scheffer, I. E., Ceulemans, B., Sullivan, J. E., Nickels, K. C., Lagae, L., Guerrini, R., Zuberi, S. M., Nabbout, R., Riney, K., et al. (2022) · JAMA Neurology

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 137

Everolimus for treatment-refractory seizures in TSC: Extension of a randomized controlled trial

Franz, D. N., Lawson, J. A., Yapici, Z., Ikeda, H., Polster, T., Nabbout, R., Curatolo, P., de Vries, P. J., Dlugos, D. J., Voi, M., et al. (2018) · Neurology Clinical Practice

Tuberous Sclerosis Complex ResearchEpilepsy research and treatment

Cited by 108

Development and content validation of a preliminary core set of patient- and caregiver-relevant outcomes for inclusion in a potential composite endpoint for Dravet Syndrome

Nabbout, R., Auvin, S., Chiron, C., Irwin, J., Mistry, A., Bonner, N., Williamson, N., & Bennett, B. (2018) · Epilepsy & Behavior

Epilepsy research and treatmentDelphi Technique in Research

Cited by 80

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

Fenfluramine provides clinically meaningful reduction in frequency of drop seizures in patients with Lennox–Gastaut syndrome: Interim analysis of an open‐label extension study

Knupp, K. G., Scheffer, I. E., Ceulemans, B., Sullivan, J., Nickels, K. C., Lagae, L., Guerrini, R., Zuberi, S. M., Nabbout, R., Riney, K., et al. (2023) · Epilepsia

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 55

Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness

Perrault, I., Hamdan, F. F., Rio, M., Capo-Chichi, J.-M., Boddaert, N., Décarie, J.-C., Maranda, B., Nabbout, R., Sylvain, M., Lortie, A., et al. (2014) · The American Journal of Human Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 50

Experience of follow-up, quality of life, and transition from pediatric to adult healthcare of patients with tuberous sclerosis complex

Bar, C., Ghobeira, R., Azzi, R., Ville, D., Riquet, A., Touraine, R., Chemaly, N., & Nabbout, R. (2019) · Epilepsy & Behavior

Adolescent and Pediatric HealthcareTuberous Sclerosis Complex Research

Cited by 49

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

Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

Guerrini, R., Mei, D., Kerti-Szigeti, K., Pepe, S., Koenig, M. K., Von Allmen, G., Cho, M. T., McDonald, K., Baker, J., Bhambhani, V., et al. (2022) · Brain

ATP Synthase and ATPases ResearchGenetics and Neurodevelopmental Disorders

Cited by 34

A European pilot study in Dravet Syndrome to delineate what really matters for the patients and families

Chemaly, N., Kuchenbuch, M., Teng, T., Marie, E., D'Onofrio, G., Lo Barco, T., Brambilla, I., Flege, S., Hallet, A., & Nabbout, R. (2024) · Epilepsia Open

Epilepsy research and treatmentMental Health and Patient Involvement

Cited by 20