Rima Nabbout

Research interests

Publications

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

  Epilepsia · 2022 · 10.1111/epi.17236

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

  Epilepsia · 2022 · 10.1111/epi.17237

• 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

  Epilepsia · 2022 · https://doi.org/10.1111/epi.17241

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

  Epilepsia · 2022 · https://doi.org/10.1111/epi.17239

• 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

  Epilepsia · 2022 · 10.1111/epi.17240

• Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations

  Pediatric Neurology · 2021 · https://doi.org/10.1016/j.pediatrneurol.2021.07.011

• Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial

  Annals of Neurology · 2020 · 10.1002/ana.25956

• Proposed consensus definitions for new‐onset refractory status epilepticus (NORSE), febrile infection‐related epilepsy syndrome (FIRES), and related conditions

  Epilepsia · 2018 · 10.1111/epi.14016

• New‐onset refractory status epilepticus (NORSE) and febrile infection–related epilepsy syndrome (FIRES): State of the art and perspectives

  Epilepsia · 2018 · 10.1111/epi.14022

• Long‐term cannabidiol treatment in patients with Dravet syndrome: An open‐label extension trial

  Epilepsia · 2018 · 10.1111/epi.14628

• TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients

  Orphanet Journal of Rare Diseases · 2017 · 10.1186/s13023-016-0553-5

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

  New England Journal of Medicine · 2017 · https://doi.org/10.1056/nejmoa1611618

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

  The Lancet · 2016 · 10.1016/s0140-6736(16)31419-2

• Characterization of human disease phenotypes associated with mutations in TREX1 , RNASEH2A , RNASEH2B , RNASEH2C , SAMHD1 , ADAR , and IFIH1

  American Journal of Medical Genetics Part A · 2015 · https://doi.org/10.1002/ajmg.a.36887

• Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

  Human Molecular Genetics · 2014 · 10.1093/hmg/ddu030

• Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

  Pediatric Neurology · 2013 · 10.1016/j.pediatrneurol.2013.08.002

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

  Pediatric Neurology · 2013 · 10.1016/j.pediatrneurol.2013.08.001

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

  Nature Genetics · 2012 · 10.1038/ng.2441

• Febrile infection-related epilepsy syndrome (FIRES): Pathogenesis, treatment, and outcome

  Epilepsia · 2011 · 10.1111/j.1528-1167.2011.03250.x

• The genetics of Dravet syndrome

  Epilepsia · 2011 · 10.1111/j.1528-1167.2011.02997.x

• Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

  Brain · 2010 · 10.1093/brain/awq143

• Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

  Human Molecular Genetics · 2010 · 10.1093/hmg/ddq377

• Efficacy of ketogenic diet in severe refractory status epilepticus initiating fever induced refractory epileptic encephalopathy in school age children (FIRES)

  Epilepsia · 2010 · 10.1111/j.1528-1167.2010.02703.x

• Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

  PLoS Genetics · 2009 · 10.1371/journal.pgen.1000381

• Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

  Journal of Medical Genetics · 2008 · 10.1136/jmg.2008.062323

Current projects

No projects listed.