Rima Nabbout (R Nabbout)

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 76

Top Topics

Systematic Review

Magnetic Resonance

Temporal Lobe Epilepsy

Top Venues

Orphanet journal of rare diseases

This page only lists publications with an associated author ORCID identifier.

Publications

Sam Amin, Rikke Steensjerre Moller, Angel Aledo-Serrano, Alexis A Arzimanoglou, Patrick Bager, Sergiusz Jóźwiak, Gerhard Josef Kluger, Sandra López-Cabeza, Rima Nabbout, Carol-Anne Partridge, Susanne Schubert-Bast, Nicola Specchio, Reetta Kälviäinen
Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey. Epilepsia open 9 (3) (2024)
Emilio Perucca, Jacqueline A French, Ghaieb Aljandeel, Simona Balestrini, Patricia Braga, Jorge G Burneo, Augustina Charway Felli, Judith Helen Cross, Aristea S Galanopoulou, Satish Jain, Yu-Wu Jiang, Reetta Kalviainen, Shih-Hui Lim, Kimford J Meador, Zarine Mogal, Rima Nabbout, Francesca Sofia, Ernest R Somerville, Mickael R Sperling, Chahnez Charfi Triki, Eugen Trinka, Matthew C Walker, Samuel Wiebe, Jo M Wilmshurst, Elaine C Wirrell, Elza Marcia Targas Yacubian, Jaideep Kapur
Which terms should be used to describe medications used in the treatment of seizure disorders? An ILAE position paper. Epilepsia 65 (3) (2024)
Rocio Garcia-Uzquiano, Giulia Barcia, Emma Losito, Nicole Chemaly, Anna Kaminska, Isabelle Desguerre, Thomas Blauwblomme, Nathalie Boddaert, Rima Nabbout
Genetic testing, another important tool in presurgical evaluation of focal epilepsies in childhood. Epilepsia open 9 (4) (2024)
Rocio Garcia-Uzquiano, Giulia Barcia, Emma Losito, Nicole Chemaly, Anna Kaminska, Isabelle Desguerre, Thomas Blauwblomme, Nathalie Boddaert, Rima Nabbout
Genetic testing, another important tool in presurgical evaluation of focal epilepsies in childhood. Epilepsia open 9 (4) (2024)
Sam Amin, Rikke Steensjerre Moller, Angel Aledo-Serrano, Alexis A Arzimanoglou, Patrick Bager, Sergiusz Jóźwiak, Gerhard Josef Kluger, Sandra López-Cabeza, Rima Nabbout, Carol-Anne Partridge, Susanne Schubert-Bast, Nicola Specchio, Reetta Kälviäinen
Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey. Epilepsia open (2024)
Sameer M Zuberi, Elaine C Wirrell, Paolo Tinuper, Rima Nabbout
Response: Do all individuals with Dravet syndrome have intellectual disability? Epilepsia 65 (6) (2024)
Declan Gallagher, Eduardo Pérez-Palma, Tobias Bruenger, Ismael Ghanty, Eva Brilstra, Berten Ceulemans, Nicole Chemaly, Iris M de Lange, Christel Depienne, Renzo Guerrini, Davide Mei, Rikke Steensjerre Moller, Rima Nabbout, Brigid M Regan, Amy L Schneider, Ingrid Eileen Scheffer, An-Sofie Schoonjans, Joseph D Symonds, Sarah Weckhuysen, Sameer M Zuberi, Dennis Lal, Andreas Brunklaus
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies. Epilepsia 65 (4) (2024)
Rocio Garcia-Uzquiano, Giulia Barcia, Emma Losito, Nicole Chemaly, Anna Kaminska, Isabelle Desguerre, Thomas Blauwblomme, Nathalie Boddaert, Rima Nabbout
Genetic testing, another important tool in presurgical evaluation of focal epilepsies in childhood. Epilepsia open (2024)
Emilio Perucca, Jacqueline A French, Ghaieb Aljandeel, Simona Balestrini, Patricia Braga, Jorge G Burneo, Augustina Charway Felli, Judith Helen Cross, Aristea S Galanopoulou, Satish Jain, Yu-Wu Jiang, Reetta Kalviainen, Shih-Hui Lim, Kimford J Meador, Zarine Mogal, Rima Nabbout, Francesca Sofia, Ernest R Somerville, Mickael R Sperling, Chahnez Charfi Triki, Eugen Trinka, Matthew C Walker, Samuel Wiebe, Jo M Wilmshurst, Elaine C Wirrell, Elza Marcia Targas Yacubian, Jaideep Kapur
Which terms should be used to describe medications used in the treatment of seizure disorders? An ILAE position paper. Epilepsia 65 (3) (2024)
Sameer M Zuberi, Elaine C Wirrell, Paolo Tinuper, Rima Nabbout
Response: Do all individuals with Dravet syndrome have intellectual disability? Epilepsia (2024)
Emilio Perucca, Jacqueline A French, Ghaieb Aljandeel, Simona Balestrini, Patricia Braga, Jorge G Burneo, Augustina Charway Felli, Judith Helen Cross, Aristea S Galanopoulou, Satish Jain, Yu-Wu Jiang, Reetta Kalviainen, Shih-Hui Lim, Kimford J Meador, Zarine Mogal, Rima Nabbout, Francesca Sofia, Ernest R Somerville, Mickael R Sperling, Chahnez Charfi Triki, Eugen Trinka, Matthew C Walker, Samuel Wiebe, Jo M Wilmshurst, Elaine C Wirrell, Elza Marcia Targas Yacubian, Jaideep Kapur
Which terms should be used to describe medications used in the treatment of seizure disorders? An ILAE position paper. Epilepsia (2024)
Declan Gallagher, Eduardo Pérez-Palma, Tobias Bruenger, Ismael Ghanty, Eva Brilstra, Berten Ceulemans, Nicole Chemaly, Iris M de Lange, Christel Depienne, Renzo Guerrini, Davide Mei, Rikke Steensjerre Moller, Rima Nabbout, Brigid M Regan, Amy L Schneider, Ingrid Eileen Scheffer, An-Sofie Schoonjans, Joseph D Symonds, Sarah Weckhuysen, Sameer M Zuberi, Dennis Lal, Andreas Brunklaus
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies. Epilepsia 65 (4) (2024)
Rocio Garcia-Uzquiano, Giulia Barcia, Emma Losito, Nicole Chemaly, Anna Kaminska, Isabelle Desguerre, Thomas Blauwblomme, Nathalie Boddaert, Rima Nabbout
Genetic testing, another important tool in presurgical evaluation of focal epilepsies in childhood. Epilepsia open 9 (4) (2024)
Antonio Gil-Nagel, Judith Helen Cross, Orrin Devinsky, Berten Ceulemans, Lieven Lagae, Kelly G Knupp, An-Sofie Schoonjans, Philippe Ryvlin, Elizabeth A Thiele, Shikha Polega, Amélie Lothe, Rima Nabbout
Comprehensive scoping review of fenfluramine's role in managing generalized tonic-clonic seizures in developmental and epileptic encephalopathies. Epilepsia (2024)
Sam Amin, Rikke Steensjerre Moller, Angel Aledo-Serrano, Alexis A Arzimanoglou, Patrick Bager, Sergiusz Jóźwiak, Gerhard Josef Kluger, Sandra López-Cabeza, Rima Nabbout, Carol-Anne Partridge, Susanne Schubert-Bast, Nicola Specchio, Reetta Kälviäinen
Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey. Epilepsia open 9 (3) (2024)
Declan Gallagher, Eduardo Pérez-Palma, Tobias Bruenger, Ismael Ghanty, Eva Brilstra, Berten Ceulemans, Nicole Chemaly, Iris M de Lange, Christel Depienne, Renzo Guerrini, Davide Mei, Rikke Steensjerre Moller, Rima Nabbout, Brigid M Regan, Amy L Schneider, Ingrid Eileen Scheffer, An-Sofie Schoonjans, Joseph D Symonds, Sarah Weckhuysen, Sameer M Zuberi, Dennis Lal, Andreas Brunklaus
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies. Epilepsia (2024)
Mathilde Gras, David Bearden, Justin West, Rima Nabbout
Efficacy of anti-seizure medications and alternative therapies (ketogenic diet, CBD, and quinidine) in KCNT1-related epilepsy: A systematic review. Epilepsia open 9 (4) (2024)
Sameer M Zuberi, Elaine C Wirrell, Paolo Tinuper, Rima Nabbout
Response: Do all individuals with Dravet syndrome have intellectual disability? Epilepsia 65 (6) (2024)
Antonio Gil-Nagel, Judith Helen Cross, Orrin Devinsky, Berten Ceulemans, Lieven Lagae, Kelly G Knupp, An-Sofie Schoonjans, Philippe Ryvlin, Elizabeth A Thiele, Shikha Polega, Amélie Lothe, Rima Nabbout
Comprehensive scoping review of fenfluramine's role in managing generalized tonic-clonic seizures in developmental and epileptic encephalopathies. Epilepsia 65 (8) (2024)
Emilio Perucca, Jacqueline A French, Ghaieb Aljandeel, Simona Balestrini, Patricia Braga, Jorge G Burneo, Augustina Charway Felli, Judith Helen Cross, Aristea S Galanopoulou, Satish Jain, Yu-Wu Jiang, Reetta Kalviainen, Shih-Hui Lim, Kimford J Meador, Zarine Mogal, Rima Nabbout, Francesca Sofia, Ernest R Somerville, Mickael R Sperling, Chahnez Charfi Triki, Eugen Trinka, Matthew C Walker, Samuel Wiebe, Jo M Wilmshurst, Elaine C Wirrell, Elza Marcia Targas Yacubian, Jaideep Kapur
Which terms should be used to describe medications used in the treatment of seizure disorders? An ILAE position paper. Epilepsia (2024)
Sam Amin, Rikke Steensjerre Moller, Angel Aledo-Serrano, Alexis A Arzimanoglou, Patrick Bager, Sergiusz Jóźwiak, Gerhard Josef Kluger, Sandra López-Cabeza, Rima Nabbout, Carol-Anne Partridge, Susanne Schubert-Bast, Nicola Specchio, Reetta Kälviäinen
Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey. Epilepsia open 9 (3) (2024)
Antonio Gil-Nagel, Judith Helen Cross, Orrin Devinsky, Berten Ceulemans, Lieven Lagae, Kelly G Knupp, An-Sofie Schoonjans, Philippe Ryvlin, Elizabeth A Thiele, Shikha Polega, Amélie Lothe, Rima Nabbout
Comprehensive scoping review of fenfluramine's role in managing generalized tonic-clonic seizures in developmental and epileptic encephalopathies. Epilepsia 65 (8) (2024)
Mathilde Gras, David Bearden, Justin West, Rima Nabbout
Efficacy of anti-seizure medications and alternative therapies (ketogenic diet, CBD, and quinidine) in KCNT1-related epilepsy: A systematic review. Epilepsia open 9 (4) (2024)
Emilio Perucca, Jacqueline A French, Ghaieb Aljandeel, Simona Balestrini, Patricia Braga, Jorge G Burneo, Augustina Charway Felli, Judith Helen Cross, Aristea S Galanopoulou, Satish Jain, Yu-Wu Jiang, Reetta Kalviainen, Shih-Hui Lim, Kimford J Meador, Zarine Mogal, Rima Nabbout, Francesca Sofia, Ernest R Somerville, Mickael R Sperling, Chahnez Charfi Triki, Eugen Trinka, Matthew C Walker, Samuel Wiebe, Jo M Wilmshurst, Elaine C Wirrell, Elza Marcia Targas Yacubian, Jaideep Kapur
Which terms should be used to describe medications used in the treatment of seizure disorders? An ILAE position paper. Epilepsia 65 (3) (2024)
Mathilde Gras, David Bearden, Justin West, Rima Nabbout
Efficacy of anti-seizure medications and alternative therapies (ketogenic diet, CBD, and quinidine) in KCNT1-related epilepsy: A systematic review. Epilepsia open 9 (4) (2024)
Emilio Perucca, Jacqueline A French, Ghaieb Aljandeel, Simona Balestrini, Patricia Braga, Jorge G Burneo, Augustina Charway Felli, Judith Helen Cross, Aristea S Galanopoulou, Satish Jain, Yu-Wu Jiang, Reetta Kalviainen, Shih-Hui Lim, Kimford J Meador, Zarine Mogal, Rima Nabbout, Francesca Sofia, Ernest R Somerville, Mickael R Sperling, Chahnez Charfi Triki, Eugen Trinka, Matthew C Walker, Samuel Wiebe, Jo M Wilmshurst, Elaine C Wirrell, Elza Marcia Targas Yacubian, Jaideep Kapur
Which terms should be used to describe medications used in the treatment of seizure disorders? An ILAE position paper. Epilepsia (2024)
Naziha Bakouh, Reyes Castaño-Martín, Alice Metais, Emanuela Loredana Dan, Estelle Balducci, Cerina Chhuon, Joanna Lepicka, Giulia Barcia, Emma Losito, Stéphane Lourdel, Gabrielle Planelles, Raul C Muresan, Vasile Vlad Moca, Anna Kaminska, Marie Bourgeois, Nicole Chemaly, Yasmine Rguez, Stėphane Auvin, Gilles Huberfeld, Pascale Varlet, Vahid Asnafi, Ida Chiara Guerrera, Edor Kabashi, Rima Nabbout, Sorana Ciura, Thomas Blauwblomme
Chloride deregulation and GABA depolarization in MTOR related malformations of cortical development. Brain : a journal of neurology (2024)
Emilio Perucca, Jacqueline A French, Ghaieb Aljandeel, Simona Balestrini, Patricia Braga, Jorge G Burneo, Augustina Charway Felli, Judith Helen Cross, Aristea S Galanopoulou, Satish Jain, Yu-Wu Jiang, Reetta Kalviainen, Shih-Hui Lim, Kimford J Meador, Zarine Mogal, Rima Nabbout, Francesca Sofia, Ernest R Somerville, Mickael R Sperling, Chahnez Charfi Triki, Eugen Trinka, Matthew C Walker, Samuel Wiebe, Jo M Wilmshurst, Elaine C Wirrell, Elza Marcia Targas Yacubian, Jaideep Kapur
Which terms should be used to describe medications used in the treatment of seizure disorders? An ILAE position paper. Epilepsia (2024)
Rima Nabbout, Galliano Zanello, Dixie Baker, Lora Black, Isabella Brambilla, Orion J Buske, Laurie S Conklin, Elin Haf Davies, Daria Julkowska, Yeonju Kim, Thomas Klopstock, Harumasa Nakamura, Kim G Nielsen, Anne R Pariser, Jose Carlos Pastor, Maurizio Scarpa, Maureen Smith, Domenica Taruscio, Stephen Groft
Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force. Orphanet journal of rare diseases 18 (1) (2023)
Catherine Chiron, Nicole Chemaly, Laurent Chancharme, Rima Nabbout
Initiating stiripentol before 2 years of age in patients with Dravet syndrome is safe and beneficial against status epilepticus. Developmental medicine and child neurology (2023)
Joseph Sullivan, Lieven Lagae, Judith Helen Cross, Orrin Devinsky, Renzo Guerrini, Kelly G Knupp, Linda Laux, Marina Nikanorova, Tilman Polster, Dinesh Talwar, Berten Ceulemans, Rima Nabbout, Gail M Farfel, Bradley S Galer, Arnold R Gammaitoni, Michael Lock, Anupam Agarwal, Ingrid Eileen Scheffer, null null
Fenfluramine in the treatment of Dravet syndrome: Results of a third randomized, placebo-controlled clinical trial. Epilepsia (2023)
Rima Nabbout, Galliano Zanello, Dixie Baker, Lora Black, Isabella Brambilla, Orion J Buske, Laurie S Conklin, Elin Haf Davies, Daria Julkowska, Yeonju Kim, Thomas Klopstock, Harumasa Nakamura, Kim G Nielsen, Anne R Pariser, Jose Carlos Pastor, Maurizio Scarpa, Maureen Smith, Domenica Taruscio, Stephen Groft
Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force. Orphanet journal of rare diseases 18 (1) (2023)
Rima Nabbout, Galliano Zanello, Dixie Baker, Lora Black, Isabella Brambilla, Orion J Buske, Laurie S Conklin, Elin Haf Davies, Daria Julkowska, Yeonju Kim, Thomas Klopstock, Harumasa Nakamura, Kim G Nielsen, Anne R Pariser, Jose Carlos Pastor, Maurizio Scarpa, Maureen Smith, Domenica Taruscio, Stephen Groft
Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force. Orphanet journal of rare diseases 18 (1) (2023)
Tommaso Lo Barco, Nicolas Garcelon, Antoine Neuraz, Rima Nabbout
Natural history of rare diseases using Natural Language Processing of narrative unstructured electronic health records: the example of Dravet syndrome. Epilepsia (2023)
Rima Nabbout, Galliano Zanello, Dixie Baker, Lora Black, Isabella Brambilla, Orion J Buske, Laurie S Conklin, Elin Haf Davies, Daria Julkowska, Yeonju Kim, Thomas Klopstock, Harumasa Nakamura, Kim G Nielsen, Anne R Pariser, Jose Carlos Pastor, Maurizio Scarpa, Maureen Smith, Domenica Taruscio, Stephen Groft
Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force. Orphanet journal of rare diseases 18 (1) (2023)
Mathieu Kuchenbuch, Tommaso Lo Barco, Nicole Chemaly, Catherine Chiron, Rima Nabbout
15 years of real-world data on the use of vigabatrin in individuals with infantile epileptic spasm syndrome. Epilepsia (2023)
Edouard Hirsch, Jacqueline A French, Ingrid Eileen Scheffer, Alicia Bogacz, Taoufik Alsaadi, Mickael R Sperling, Fatema Abdulla, Sameer M Zuberi, Eugen Trinka, Nicola Specchio, Ernest R Somerville, Pauline Samia, Kate Riney, Rima Nabbout, Satish Jain, Jo M Wilmshurst, Stėphane Auvin, Samuel Wiebe, Emilio Perucca, Solomon L Moshé, Paolo Tinuper, Elaine C Wirrell
ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia 63 (6) (2022)
Elaine C Wirrell, Rima Nabbout, Ingrid Eileen Scheffer, Taoufik Alsaadi, Alicia Bogacz, Jacqueline A French, Edouard Hirsch, Satish Jain, Sunao Kaneko, Kate Riney, Pauline Samia, O Carter Snead, Ernest R Somerville, Nicola Specchio, Eugen Trinka, Sameer M Zuberi, Simona Balestrini, Samuel Wiebe, Judith Helen Cross, Emilio Perucca, Solomon L Moshé, Paolo Tinuper
Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions. Epilepsia 63 (6) (2022)
Kelly G Knupp, Ingrid Eileen Scheffer, Berten Ceulemans, Joseph Sullivan, Katherine C Nickels, Lieven Lagae, Renzo Guerrini, Sameer M Zuberi, Rima Nabbout, Kate Riney, Anupam Agarwal, Michael Lock, David Dai, Gail M Farfel, Bradley S Galer, Arnold R Gammaitoni, Shikha Polega, Ronald Davis, Antonio Gil-Nagel
Fenfluramine provides clinically meaningful reduction in frequency of drop seizures in patients with Lennox-Gastaut syndrome: Interim analysis of an open-label extension study. Epilepsia (2022)
Sameer M Zuberi, Elaine C Wirrell, Elissa G Yozawitz, Jo M Wilmshurst, Nicola Specchio, Kate Riney, Ronit M Pressler, Stėphane Auvin, Pauline Samia, Edouard Hirsch, Santiago Galicchio, Chahnez Triki, O Carter Snead, Samuel Wiebe, Judith Helen Cross, Paolo Tinuper, Ingrid Eileen Scheffer, Emilio Perucca, Solomon L Moshé, Rima Nabbout
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 63 (6) (2022)
Volodia Dangouloff-Ros, Ludovic Fillon, Monika Eisermann, Emma Losito, Jennifer Boisgontier, Sarah Charpy, Ana Saitovitch, Raphaël Levy, Charles-Joris Roux, Pascale Varlet, Catherine Chiron, Marie Bourgeois, Anna Kaminska, Thomas Blauwblomme, Rima Nabbout, Nathalie Boddaert
Preoperative Detection of Subtle Focal Cortical Dysplasia in Children by Combined Arterial Spin Labeling, Voxel-Based Morphometry, Electroencephalography-Synchronized Functional MRI, Resting-State Regional Homogeneity, and 18F-fluorodeoxyglucose Positron Emission Tomography. Neurosurgery 92 (4) (2022)
Rima Nabbout, Mathieu Kuchenbuch, Paolo Tinuper, Judith Helen Cross, Elaine C Wirrell
3D figure of epilepsy syndromes. Epilepsia open (2022)
Volodia Dangouloff-Ros, Ludovic Fillon, Monika Eisermann, Emma Losito, Jennifer Boisgontier, Sarah Charpy, Ana Saitovitch, Raphaël Levy, Charles-Joris Roux, Pascale Varlet, Catherine Chiron, Marie Bourgeois, Anna Kaminska, Thomas Blauwblomme, Rima Nabbout, Nathalie Boddaert
Preoperative Detection of Subtle Focal Cortical Dysplasia in Children by Combined Arterial Spin Labeling, Voxel-Based Morphometry, Electroencephalography-Synchronized Functional MRI, Resting-State Regional Homogeneity, and 18F-fluorodeoxyglucose Positron Emission Tomography. Neurosurgery (2022)
Volodia Dangouloff-Ros, Ludovic Fillon, Monika Eisermann, Emma Losito, Jennifer Boisgontier, Sarah Charpy, Ana Saitovitch, Raphaël Levy, Charles-Joris Roux, Pascale Varlet, Catherine Chiron, Marie Bourgeois, Anna Kaminska, Thomas Blauwblomme, Rima Nabbout, Nathalie Boddaert
Preoperative Detection of Subtle Focal Cortical Dysplasia in Children by Combined Arterial Spin Labeling, Voxel-Based Morphometry, Electroencephalography-Synchronized Functional MRI, Resting-State Regional Homogeneity, and 18F-fluorodeoxyglucose Positron Emission Tomography. Neurosurgery (2022)
Louis Soussand, Mathieu Kuchenbuch, Claude Messiaen, Arnaud Sandrin, Anne-Sophie Jannot, Rima Nabbout
Impact of the COVID-19 pandemic on the care of rare and undiagnosed diseases patients in France: a longitudinal population-based study. Orphanet journal of rare diseases 17 (1) (2022)
Louis Soussand, Mathieu Kuchenbuch, Claude Messiaen, Arnaud Sandrin, Anne-Sophie Jannot, Rima Nabbout
Impact of the COVID-19 pandemic on the care of rare and undiagnosed diseases patients in France: a longitudinal population-based study. Orphanet journal of rare diseases 17 (1) (2022)
Pierre-Yves Maillard, Sarah Baer, Élise Schaefer, Beatrice Desnous, Nathalie Villeneuve, Anne Lépine, Alexandre Fabre, Caroline Lacoste, Salima El Chehadeh, Amélie Piton, Louise Frances Porter, Caroline Perriard, Marie-Thérèse Abi Wardé, Marie-Aude Spitz, Vincent Laugel, Gaëtan Lesca, Audrey Putoux, Dorothee M Ville, Cyril Mignot, Delphine Héron, Rima Nabbout, Giulia Barcia, Marlène Rio, Agathe Roubertie, Pierre Meyer, Véronique Paquis-Flucklinger, Olivier Patat, Jérémie Lefranc, Marion Gerard, null null, Julietta de Bellescize, Laurent Villard, Anne De Saint Martin, Mathieu Milh
Molecular and clinical descriptions of patients with GABA A receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation. Epilepsia 63 (10) (2022)
Sheryl R Haut, Rima Nabbout
Recognizing seizure clusters in the community: The path to uniformity and individualization in nomenclature and definition. Epilepsia (2022)
Volodia Dangouloff-Ros, Ludovic Fillon, Monika Eisermann, Emma Losito, Jennifer Boisgontier, Sarah Charpy, Ana Saitovitch, Raphaël Levy, Charles-Joris Roux, Pascale Varlet, Catherine Chiron, Marie Bourgeois, Anna Kaminska, Thomas Blauwblomme, Rima Nabbout, Nathalie Boddaert
Preoperative Detection of Subtle Focal Cortical Dysplasia in Children by Combined Arterial Spin Labeling, Voxel-Based Morphometry, Electroencephalography-Synchronized Functional MRI, Resting-State Regional Homogeneity, and 18F-fluorodeoxyglucose Positron Emission Tomography. Neurosurgery 92 (4) (2022)
Louis Soussand, Mathieu Kuchenbuch, Claude Messiaen, Arnaud Sandrin, Anne-Sophie Jannot, Rima Nabbout
Impact of the COVID-19 pandemic on the care of rare and undiagnosed diseases patients in France: a longitudinal population-based study. Orphanet journal of rare diseases 17 (1) (2022)
Hanna M Hulshof, Hugo J Kuijf, Katarzyna Kotulska, Paolo Curatolo, Bernhard Weschke, Kate Riney, Pavel Krsek, Martha Feucht, Rima Nabbout, Lieven Lagae, Anna C Jansen, Willem M Otte, Maarten H Lequin, Kamil Sijko, Arianna Benvenuto, Christoph Hertzberg, Barbora Benova, Theresa Scholl, Jessie De Ridder, Eleonora M A Aronica, David J Kwiatkowski, Sergiusz Jozwiak, Elżbieta Jurkiewicz, Kees P J Braun, Floortje E Jansen, null null
Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex. Neurology 98 (12) (2022)
Louis Soussand, Mathieu Kuchenbuch, Claude Messiaen, Arnaud Sandrin, Anne-Sophie Jannot, Rima Nabbout
Impact of the COVID-19 pandemic on the care of rare and undiagnosed diseases patients in France: a longitudinal population-based study. Orphanet journal of rare diseases 17 (1) (2022)
Elaine C Wirrell, Veronica Hood, Kelly G Knupp, Mary Anne Meskis, Rima Nabbout, Ingrid Eileen Scheffer, Jo M Wilmshurst, Joseph Sullivan
International consensus on diagnosis and management of Dravet syndrome. Epilepsia 63 (7) (2022)
Kate Riney, Alicia Bogacz, Ernest R Somerville, Edouard Hirsch, Rima Nabbout, Ingrid Eileen Scheffer, Sameer M Zuberi, Taoufik Alsaadi, Satish Jain, Jacqueline A French, Nicola Specchio, Eugen Trinka, Samuel Wiebe, Stėphane Auvin, Leonor Cabral-Lim, Ansuya Naidoo, Emilio Perucca, Solomon L Moshé, Elaine C Wirrell, Paolo Tinuper
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 63 (6) (2022)
G Pouliquen, Ludovic Fillon, Volodia Dangouloff-Ros, Mathieu Kuchenbuch, Claire Bar, Nicole Chemaly, Raphaël Levy, Charles-Joris Roux, Ana Saitovitch, Jennifer Boisgontier, Rima Nabbout, Nathalie Boddaert
Arterial Spin-Labeling Perfusion Imaging in the Early Stage of Sturge-Weber Syndrome. AJNR. American journal of neuroradiology (2022)
Nicola Specchio, Elaine C Wirrell, Ingrid Eileen Scheffer, Rima Nabbout, Kate Riney, Pauline Samia, Marilisa Guerreiro, Sam Gwer, Sameer M Zuberi, Jo M Wilmshurst, Elissa G Yozawitz, Ronit M Pressler, Edouard Hirsch, Samuel Wiebe, Judith Helen Cross, Emilio Perucca, Solomon L Moshé, Paolo Tinuper, Stėphane Auvin
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 63 (6) (2022)
Volodia Dangouloff-Ros, Ludovic Fillon, Monika Eisermann, Emma Losito, Jennifer Boisgontier, Sarah Charpy, Ana Saitovitch, Raphaël Levy, Charles-Joris Roux, Pascale Varlet, Catherine Chiron, Marie Bourgeois, Anna Kaminska, Thomas Blauwblomme, Rima Nabbout, Nathalie Boddaert
Preoperative Detection of Subtle Focal Cortical Dysplasia in Children by Combined Arterial Spin Labeling, Voxel-Based Morphometry, Electroencephalography-Synchronized Functional MRI, Resting-State Regional Homogeneity, and 18F-fluorodeoxyglucose Positron Emission Tomography. Neurosurgery 92 (4) (2022)
Louis Soussand, Mathieu Kuchenbuch, Claude Messiaen, Arnaud Sandrin, Anne-Sophie Jannot, Rima Nabbout
Impact of the COVID-19 pandemic on the care of rare and undiagnosed diseases patients in France: a longitudinal population-based study. Orphanet journal of rare diseases 17 (1) (2022)
Volodia Dangouloff-Ros, Ludovic Fillon, Monika Eisermann, Emma Losito, Jennifer Boisgontier, Sarah Charpy, Ana Saitovitch, Raphaël Levy, Charles-Joris Roux, Pascale Varlet, Catherine Chiron, Marie Bourgeois, Anna Kaminska, Thomas Blauwblomme, Rima Nabbout, Nathalie Boddaert
Preoperative Detection of Subtle Focal Cortical Dysplasia in Children by Combined Arterial Spin Labeling, Voxel-Based Morphometry, Electroencephalography-Synchronized Functional MRI, Resting-State Regional Homogeneity, and 18F-fluorodeoxyglucose Positron Emission Tomography. Neurosurgery 92 (4) (2022)
Tommaso Lo Barco, Mathieu Kuchenbuch, Nicolas Garcelon, Antoine Neuraz, Rima Nabbout
Improving early diagnosis of rare diseases using Natural Language Processing in unstructured medical records: an illustration from Dravet syndrome. Orphanet journal of rare diseases 16 (1) (2021)
Rima Nabbout, Mathieu Kuchenbuch, Catherine Chiron, Paolo Curatolo
Pharmacotherapy for Seizures in Tuberous Sclerosis Complex. CNS drugs 35 (9) (2021)
Mathieu Kuchenbuch, Rima Nabbout, Maxime Yochum, Paul Sauleau, Julien Modolo, Fabrice Wendling, Pascal Benquet
In silico model reveals the key role of GABA in KCNT1-epilepsy in infancy with migrating focal seizures. Epilepsia 62 (3) (2021)
Isabella Brambilla, José Ángel Aibar, Anne Sophie Hallet, Irena Bibic, Elena Cardenal-Muñoz, Igor Prpic, Francesca Darra, Nicola Specchio, Rima Nabbout
Impact of the COVID-19 lockdown on patients and families with Dravet syndrome. Epilepsia open 6 (1) (2021)
Yalan Zhang, Syed R Ali, Rima Nabbout, Giulia Barcia, Leonard K Kaczmarek
A KCNC1 mutation in epilepsy of infancy with focal migrating seizures produces functional channels that fail to be regulated by PKC phosphorylation. Journal of neurophysiology 126 (2) (2021)
Marie Hully, Tommaso Lo Barco, Anna Kaminska, Giulia Barcia, Claude Cances, Cyril Mignot, Isabelle Desguerre, Nicolas Garcelon, Edor Kabashi, Rima Nabbout
Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes. Genetics in medicine : official journal of the American College of Medical Genetics 23 (5) (2021)
Rima Nabbout, N Chemaly, Catherine Chiron, Mathieu Kuchenbuch
Safety considerations selecting antiseizure medications for the treatment of individuals with Dravet syndrome. Expert opinion on drug safety 20 (5) (2021)
Romina Moavero, Katarzyna Kotulska, Lieven Lagae, Arianna Benvenuto, Leonardo Emberti Gialloreti, Bernhard Weschke, Kate Riney, Martha Feucht, Pavel Krsek, Rima Nabbout, Anna C Jansen, Konrad Wojdan, Julita Borkowska, Krzysztof Sadowski, Christoph Hertzberg, Monique M Van Schooneveld, Sharon Samueli, Alice Maulisovà, Eleonora Aronica, David J Kwiatkowski, Floor E Jansen, Sergiusz Jozwiak, Paolo Curatolo, null null
Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex? Annals of clinical and translational neurology 7 (8) (2020)
Judith Helen Cross, Roberto H Caraballo, Rima Nabbout, Federico Vigevano, Renzo Guerrini, Lieven Lagae
Dravet syndrome: Treatment options and management of prolonged seizures. Epilepsia (2020)
Mathieu Kuchenbuch, Gianluca D'Onofrio, Nicole Chemaly, Giulia Barcia, Théo Teng, Rima Nabbout
Add-on cannabidiol significantly decreases seizures in 3 patients with SYNGAP1 developmental and epileptic encephalopathy. Epilepsia open 5 (3) (2020)
Rima Nabbout, Mathieu Kuchenbuch
Impact of predictive, preventive and precision medicine strategies in epilepsy. Nature reviews. Neurology 16 (12) (2020)
Ingo Helbig, Giulia Barcia, Manuela Pendziwiat, Shiva Ganesan, Stefanie H Mueller, Katherine L Helbig, Priya Vaidiswaran, Julie Xian, Peter D Galer, Zaid Afawi, Nicola Specchio, Gerhard Kluger, Gregor Kuhlenbäumer, Silke Appenzeller, Michael Wittig, Uri Kramer, Andreas van Baalen, Rima Nabbout, null null
Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome. Annals of clinical and translational neurology 7 (8) (2020)
Giulia Barcia, Nicole Chemaly, Mathieu Kuchenbuch, Monika Eisermann, Stéphanie Gobin-Limballe, Viorica Ciorna, Alfons Macaya, Laetitia Lambert, Fanny Dubois, Diane Doummar, Thierry Billette de Villemeur, Nathalie Villeneuve, Marie-Anne Barthez, Caroline Nava, Nathalie Boddaert, Anna Kaminska, Nadia Bahi-Buisson, Mathieu Milh, Stéphane Auvin, Jean-Paul Bonnefont, Rima Nabbout
Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability. Neurology. Genetics 5 (6) (2019)
Svetlana Gataullina, Thierry Bienvenu, Rima Nabbout, Gilles Huberfeld, Olivier Dulac
Gene mutations in paediatric epilepsies cause NMDA-pathy, and phasic and tonic GABA-pathy. Developmental medicine and child neurology 61 (8) (2019)
Claire Bar, Jean-Michel Pedespan, Olivia Boccara, Nicolas Garcelon, Raphael Levy, David Grévent, Nathalie Boddaert, Rima Nabbout
Early magnetic resonance imaging to detect presymptomatic leptomeningeal angioma in children with suspected Sturge-Weber syndrome. Developmental medicine and child neurology 62 (2) (2019)
Claire Bar, Giulia Barcia, Mélanie Jennesson, Gwenaël Le Guyader, Amy Schneider, Cyril Mignot, Gaetan Lesca, Delphine Breuillard, Martino Montomoli, Boris Keren, Diane Doummar, Thierry Billette de Villemeur, Alexandra Afenjar, Isabelle Marey, Marion Gerard, Hervé Isnard, Alice Poisson, Sophie Dupont, Patrick Berquin, Pierre Meyer, David Genevieve, Anne De Saint Martin, Salima El Chehadeh, Jamel Chelly, Agnès Guët, Emmanuel Scalais, Nathalie Dorison, Candace T Myers, Heather C Mefford, Katherine B Howell, Carla Marini, Jeremy L Freeman, Anca Nica, Gaetano Terrone, Tayeb Sekhara, Anne-Sophie Lebre, Sylvie Odent, Lynette G Sadleir, Arnold Munnich, Renzo Guerrini, Ingrid E Scheffer, Edor Kabashi, Rima Nabbout
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. Human mutation 41 (1) (2019)
Rima Nabbout, Stephane Auvin, Catherine Chiron, Elizabeth Thiele, Helen Cross, Ingrid Eileen Scheffer, Amy L Schneider, Renzo Guerrini, Nicola Williamson, null null
Perception of impact of Dravet syndrome on children and caregivers in multiple countries: looking beyond seizures. Developmental medicine and child neurology 61 (10) (2019)