French national reference center for rare epilepsies (CRéER)
The Reference Center for Rare Epilepsies (CRéER) at Necker-Enfants malades hospital is a constituent site of the national network of centers dedicated to the care of patients with rare epilepsies. CREER is made up of a coordinating center (Hôpital de la Timone, AP-HM) and several constituent and competence sites in partnership with patient associations extending throughout the national territory (metropolitan France and DOM).
Our reference center has integrated the DéfiScience rare diseases healthcare network, which brings together resources and expertises in the field of brain development and intellectual disability rare diseases.
Our Necker site is a founding and board member of the EpiCARE european network dedicated to rare and complex epilepsies (European Reference Network for Rares and Complex Epilepsies).
Medical
team
Head of the reference center
Pr Rima Nabbout
MD, PhD
Dr Nicole Chemaly
MD, PhD
In case of emergency
CRéER’s objective is to improve knowledge of rare epilepsies, their diagnoses, their causes, their social and societal impacts and to offer the best overall care including specific therapies, whether by using drugs, surgery or dietetics. We offer a translational clinical-research vision for all our areas of work in order to get back to the patient and his family with the appropriate and optimal care.
Particular importance is given to monitoring the cognitive development of patients, and neuropsychiatric disorders, the majority of rare epilepsies can be accompanied by cognitive, behavioral or psychological difficulties.
The transition to adulthood is another major focus of our network, our centers including pediatric and adult experts have the mission of preparing and improving this transition.
In order to achieve these objectives, our reference center aims to promote:
- improving patient care by ensuring early diagnosis of the type of epilepsy or syndrome;
- the proposal of different treatment modalities (medication, surgery, ketogenic diet, vagus nerve stimulator);
- multidisciplinary follow-up of patients taking into account developmental problems, psychiatric disorders and behavior;
- improving local care;
- the transition from pediatrics to the adult sector;
- the promotion of therapeutic trials and research around its themes at the national and international level;
- training for doctors and paramedical professionals.
- Rare neonatal and infantile syndromic epilepsies
- Early infantile epileptic encephalopathy with suppression-bursts, Ohtahara syndrome
- Early-onset progressive encephalopathy with migrant continuous myoclonus
- West Syndrome
- Dravet syndrome
- Rare syndromic epilepsies in children
- Doose Syndrome
- Epileptic encephalopathy with continuous spike-and-wave during slow sleep
- Epilepsy with myoclonic absences
- Lennox-Gastaut syndrome
- Myoclonic epilepsies
- Rare syndromic epilepsies in adults: TEA, Status epilepticus
- Rare monogenic epilepsies
- Benign familial neonatal convulsions – KNCQ2 / 3 genes
- Benign familial neonatal-infantile seizures – SCN2A genes
- Autosomal dominant nocturnal frontal lobe epilepsy – CHRNA4 gene
- Familial focal epilepsy with variable foci
- Rare epilepsies of chromosomal or genetic cause
- Angelman syndrome
- Ring chromosome 20 syndrome
- Microdeletional syndromes
- Rare epilepsies of metabolic cause
- Pyridoxine-dependent epilepsy
- Non-ketotic hyperglycinemia
- Menkes disease
- Creatine deficiency syndrome (CDS) – 150 cases, GLUT1 deficiency
- Rare epilepsies of structural cause: cortical dysplasia, polymicrogyria, heterotopias, hypothalamic hamartoma, hemimegalencephaly, rare neurodevelopmental tumors (DNET gangliomas)
- Phacomatosis: Tuberous sclerosis complex
- Sturge Weber Syndrome
- Rare epilepsies of dysimmune origin
- Encephalitis with antineuronal antibodies – anti NMDA, LGI1, CASPR, GAD,
- Rasmussen syndrome
- Idiopathic hemiconvulsion-hemiplegia syndrome
- Febrile infection-related epilepsy syndrome (FIRES)
Professor Rima Nabbout heads the epilepsies program and develops healthcare of excellence and research in order to carry out these missions for patients with rare epilepsies, in different areas of activity:
- Therapeutic pathway of the child with rare epilepsies and his parents
- Therapeutic pathway for infants and adolescents and their families with Bourneville tuberous sclerosis
The national diagnostic and care protocols (PNDS) are good practice guidelines for rare diseases. The objective of a PNDS is to explain to concerned professionals the optimal diagnostic and therapeutic care and the care pathway of a patient suffering from a given rare disease.
As planned in the second national rare diseases plan 2011-2014, they are developed by the rare diseases reference and competence centers using a method proposed by the Haute Autorité de Santé (HAS).
The PNDS include a « summary for the attending physician » section
- Dravet syndrome (2021)
- Tuberous sclerosis complex (2021)
- Epileptic encephalopathy with continuous spike-and-wave during slow sleep (2021)
- Infant myoclonic epilepsy (2019)
- Sturge Weber Syndrome – co-authored with the rare diseases health sector FIMARAD (in preparation)
2024
– Evaluating the patient needs and tolerability of Clobazam liquid formulation (Likozam® 1 mg/mL): A French patient and care-givers’ centered survey.
Scorrano G, Delattre C, Leiber AE, Nabbout R.
Epilepsy Behav. 2024 Dec 10;163:110183. doi: 10.1016/j.yebeh.2024.110183. Epub ahead of print. PMID: 39662323.
– Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisal.
Barcia G, Scorrano G, Rio M, Gitiaux C, Hully M, Poirier K, Besmond C, Munnich A, Boddaert N, Chemaly N, Nabbout R.
Eur J Med Genet. 2024 Dec;72:104979. doi: 10.1016/j.ejmg.2024.104979. Epub 2024 Oct 16. PMID: 39423951.
– Transition from pediatric to adult care system in patients with complex epilepsies: Necker model for transition evaluated on 70 consecutive patients.
Nabbout R, Molimard A, Scorrano G, Aubart M, Breuillard D, Delaune M, Barcia G, Chemaly N, Barthez MA, Desguerre I.
Epilepsia. 2024 Nov 11. doi: 10.1111/epi.18178. Epub ahead of print. PMID: 39526973.
– Efficacy of anti-seizure medications and alternative therapies (ketogenic diet, CBD, and quinidine) in KCNT1-related epilepsy: A systematic review.
Gras M, Bearden D, West J, Nabbout R.
Epilepsia Open. 2024 Aug;9(4):1176-1191. doi: 10.1002/epi4.12975. Epub 2024 Jun 22. PMID: 39093319; PMCID: PMC11296097.
– Comprehensive scoping review of fenfluramine’s role in managing generalized tonic-clonic seizures in developmental and epileptic encephalopathies.
Gil-Nagel A, Cross JH, Devinsky O, Ceulemans B, Lagae L, Knupp K, Schoonjans AS, Ryvlin P, Thiele EA, Polega S, Lothe A, Nabbout R.
Epilepsia. 2024 Aug;65(8):2186-2199. doi: 10.1111/epi.18020. Epub 2024 Jun 21. PMID: 39030735.
– Optimization of vigabatrin dosage in children with epileptic spasms: A population pharmacokinetic approach.
Molimard A, Foissac F, Bouazza N, Gana I, Benaboud S, Froelicher L, Hirt D, Urien S, Desguerre I, Treluyer JM, Chemaly N, Nabbout R.
Br J Clin Pharmacol. 2024 Aug;90(8):1900-1910. doi: 10.1111/bcp.16072. Epub 2024 Apr 25. PMID: 38664899.
– Placebo response in patients with Dravet syndrome: Post-hoc analysis of two clinical trials.
Devinsky O, Hyland K, Loftus R, Nortvedt C, Nabbout R.
Epilepsy Behav. 2024 Jul;156:109805. doi: 10.1016/j.yebeh.2024.109805. Epub 2024 Apr 26. PMID: 38677101.
– Dravet syndrome seizure frequency and clustering: Placebo-treated patients in clinical trials.
Nabbout R, Hyland K, Loftus R, Nortvedt C, Devinsky O.
Epilepsy Behav. 2024 Jun;155:109774. doi: 10.1016/j.yebeh.2024.109774. Epub 2024 Apr 20. PMID: 38643658.
2023
– Natural history of rare diseases using natural language processing of narrative unstructured electronic health records: The example of Dravet syndrome.
Lo Barco T, Garcelon N, Neuraz A, Nabbout R.
Epilepsia. 2024 Feb;65(2):350-361. doi: 10.1111/epi.17855. Epub 2023 Dec 30. PMID: 38065926.
– Fifteen years of real-world data on the use of vigabatrin in individuals with infantile epileptic spasms syndrome.
Kuchenbuch M, Lo Barco T, Chemaly N, Chiron C, Nabbout R.
Epilepsia. 2024 Feb;65(2):430-444. doi: 10.1111/epi.17808. Epub 2023 Dec 20. PMID: 37872396.
– Initiating stiripentol before 2 years of age in patients with Dravet syndrome is safe and beneficial against status epilepticus.
Chiron C, Chemaly N, Chancharme L, Nabbout R.
Dev Med Child Neurol. 2023 Dec;65(12):1607-1616. doi: 10.1111/dmcn.15638. Epub 2023 May 17. PMID: 37198755.
– Retrospective chart review study of use of cannabidiol (CBD) independent of concomitant clobazam use in patients with Lennox-Gastaut syndrome or Dravet syndrome.
Nabbout R, Arzimanoglou A, Auvin S, Berquin P, Desurkar A, Fuller D, Nortvedt C, Pulitano P, Rosati A, Soto V, Villanueva V, Cross JH.
Seizure. 2023 Aug;110:78-85. doi: 10.1016/j.seizure.2023.05.003. Epub 2023 May 5. PMID: 37331197.
– Ketogenic diet for super-refractory status epilepticus (SRSE) with NORSE and FIRES: Single tertiary center experience and literature data.
Nabbout R, Matricardi S, De Liso P, Dulac O, Oualha M.
Front Neurol. 2023 Apr 13;14:1134827. doi: 10.3389/fneur.2023.1134827. PMID: 37122314; PMCID: PMC10133555.
2022
– ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions
Sameer M Zuberi, Elaine Wirrell, Elissa Yozawitz, Jo M Wilmshurst, Nicola Specchio, Kate Riney, Ronit Pressler, Stephane Auvin, Pauline Samia, Edouard Hirsch, Santiago Galicchio, Chahnez Triki, O Carter Snead, Samuel Wiebe, J Helen Cross, Paolo Tinuper, Ingrid E Scheffer, Emilio Perucca, Solomon L Moshé, Rima Nabbout
Epilepsia, 2022 Jun, PMID: 35503712 DOI: 10.1111/epi.17239
2021
– Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial
Katarzyna Kotulska, David J Kwiatkowski, Paolo Curatolo, Bernhard Weschke, Kate Riney, Floor Jansen, Martha Feucht, Pavel Krsek, Rima Nabbout, Anna C Jansen, Konrad Wojdan, Kamil Sijko, Jagoda Głowacka-Walas, Julita Borkowska, Krzysztof Sadowski, Dorota Domańska-Pakieła, Romina Moavero, Christoph Hertzberg, Hanna Hulshof, Theresa Scholl, Barbora Benova, Eleonora Aronica, Jessie de Ridder, Lieven Lagae, Sergiusz Jóźwiak; EPISTOP Investigators
Ann Neurol, 2021 Feb, PMID: 33180985 PMCID: PMC7898885 DOI: 10.1002/ana.25956
– Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry.
Rima Nabbout, Elena Belousova, Mirjana P Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D’Amato, Guillaume Beaure d’Augères, Petrus J de Vries et al.
Front Neurol, 2021 Sep 8, PMID: 34566842 PMCID: PMC8455825 DOI: 10.3389/fneur.2021.697467
– Pharmacotherapy for Seizures in Tuberous Sclerosis Complex.
Rima Nabbout, Mathieu Kuchenbuch, Catherine Chiron, Paolo Curatolo
CNS Drugs, 2021 Sep, PMID: 34417984 DOI: 10.1007/s40263-021-00835-8
– Improving early diagnosis of rare diseases using Natural Language Processing in unstructured medical records: an illustration from Dravet syndrome.
Tommaso Lo Barco, Mathieu Kuchenbuch, Nicolas Garcelon, Antoine Neuraz, Rima Nabbout
Orphanet J Rare Dis, 2021 Jul 13, PMID: 34256808 PMCID: PMC8278630 DOI: 10.1186/s13023-021-01936-9
– Physician and patient satisfaction with the switch to remote outpatient encounters in epilepsy clinics during the Covid-19 pandemic.
T Teng, D E Sareidaki, N Chemaly, C Bar, D Coste-Zeitoun, M Kuchenbuch, R Nabbout
Seizure, 2021 Oct, PMID: 34098318 PMCID: PMC9525220 DOI: 10.1016/j.seizure.2021.05.013
– West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the Literature.
Marc Gibaud, Magalie Barth, Jérémie Lefranc, Karine Mention, Nathalie Villeneuve, Manuel Schiff, Hélène Maurey, Marie-Anne Barthez, Isabelle Caubel, Mondher Chouchane, Diane Doummar, Manoëlle Kossorotoff, Marie-Dominique Lamblin, Agathe Roubertie, Rima Nabbout, Patrick Van Bogaert
Front Pediatr, 2021 Mar 5, PMID: 33748042 PMCID: PMC7973036 DOI: 10.3389/fped.2021.621200
– Safety considerations selecting antiseizure medications for the treatment of individuals with Dravet syndrome.
Rima Nabbout, N Chemaly, C Chiron, M Kuchenbuch
Expert Opin Drug Saf, 2021 May, PMID: 33645379 DOI: 10.1080/14740338.2021.1890025
– Fetal Brain Magnetic Resonance Imaging Findings Predict Neurodevelopment in Children with Tuberous Sclerosis Complex.
Hanna M Hulshof, Emma M H Slot, Maarten Lequin, Delphine Breuillard, Nathalie Boddaert, Sergiusz Jozwiak, Katarzyna Kotulska, Kate Riney, Martha Feucht, Sharon Samueli, Theresa Scholl, Pavel Krsek, Barbora Benova, Kees P J Braun, Floor E Jansen, Rima Nabbout, EPISTOP consortium
J Pediatr, 2021 Jun, PMID: 33640330 DOI: 10.1016/j.jpeds.2021.02.060
– SYNGAP1-DEE: A visual sensitive epilepsy.
Tommaso Lo Barco Anna Kaminska, Roberta Solazzi, Claude Cancés, Giulia Barcia, Nicole Chemaly, Elena Fontana, Isabelle Desguerre, Laura Canafoglia, Caroline Hachon Le Camus, Emma Losito, Laurent Villard, Monika Eisermann, Bernardo Dalla Bernardina, Nathalie Villeneuve, Rima Nabbout
Clin Neurophysiol,2021 Apr, PMID: 33639450 DOI: 10.1016/j.clinph.2021.01.014
– In silico model reveals the key role of GABA in KCNT1-epilepsy in infancy with migrating focal seizures.
Mathieu Kuchenbuch, Rima Nabbout, Maxime Yochum, Paul Sauleau, Julien Modolo, Fabrice Wendling, Pascal Benquet
Epilepsia, 2021 Mar, PMID: 33617692 DOI: 10.1111/epi.16834
– Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes.
Marie Hully, Tommaso Lo Barco, Anna Kaminska, Giulia Barcia, Claude Cances, Cyril Mignot, Isabelle Desguerre, Nicolas Garcelon, Edor Kabashi, Rima Nabbout
Genet Med, 2021 May, PMID: 33500571 PMCID: PMC8105164 DOI: 10.1038/s41436-020-01039-z
2020
– Impact of predictive, preventive and precision medicine strategies in epilepsy.
Rima Nabbout, Mathieu Kuchenbuch
Nat Rev Neurol, 2020 Dec, PMID: 33077944 DOI: 10.1038/s41582-020-0409-4
– Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Claire Bar,Mathieu Kuchenbuch,Giulia Barcia,Amy Schneider,Mélanie Jennesson,Gwenaël Le Guyader,Gaetan Lesca,Cyril Mignot,Martino Montomoli,Elena Parrini,Hervé Isnard,Anne Rolland,Boris Keren,Alexandra Afenjar,Nathalie Dorison,Lynette G. Sadleir,Delphine Breuillard,Raphael Levy,Marlène Rio,Sophie Dupont,Susanna Negrin,Alberto Danieli,Emmanuel Scalais,Anne De Saint Martin,Salima El Chehadeh,Jamel Chelly,Alice Poisson,Anne-Sophie Lebre,Anca Nica,Sylvie Odent,Tayeb Sekhara,Vesna Brankovic,Alice Goldenberg,Pascal Vrielynck,Damien Lederer,Hélène Maurey,Gaetano Terrone,Claude Besmond,Laurence Hubert,Patrick Berquin,Thierry Billette de Villemeur,Bertrand Isidor,Jeremy L. Freeman,Heather C. Mefford,Candace T. Myers,Katherine B. Howell,Andrés Rodríguez-Sacristán Cascajo,Pierre Meyer,David Genevieve,Agnès Guët,Diane Doummar,Julien Durigneux,Marieke F. van Dooren,Marie Claire Y. de Wit,Marion Gerard,Isabelle Marey,Arnold Munnich,Renzo Guerrini,Ingrid E. Scheffer,Edor Kabashi,Rima Nabbout
Epilepsia, 2020 Nov, PMID: 32954514 DOI: 10.1111/epi.16679
– Improving post-natal detection of mitochondrial DNA mutations.
Giulia Barcia, Zahra Assouline, Maryse Magen, Alessandra Pennisi, Agnès Rötig, Arnold Munnich, Jean-Paul Bonnefont, Julie Steffann
Expert Rev Mol Diagn, 2020 Oct, PMID: 32902337 DOI: 10.1080/14737159.2020.1820326
– Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrome Receiving Stiripentol-Inclusive Regimens: A Randomized Clinical Trial.
Rima Nabbout, Arun Mistry, Sameer Zuberi, Nathalie Villeneuve, Antonio Gil-Nagel, Rocio Sanchez-Carpintero, Ulrich Stephani, Linda Laux, Elaine Wirrell, Kelly Knupp, Catherine Chiron, Gail Farfel, Bradley S Galer, Glenn Morrison, Michael Lock, Anupam Agarwal, Stéphane Auvin, FAiRE, DS Study Group
JAMA Neurol, 2020 Mar 1, PMID: 31790543 PMCID: PMC6902175 DOI: 10.1001/jamaneurol.2019.4113
– Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.
Giulia Barcia,Marlène Rio,Zahra Assouline,Coralie Zangarelli,Naig Gueguen,Valerie D. Dumas,Pascale Marcorelles,Manuel Schiff,Abdelhamid Slama,Magalie Barth,Marie Hully
Hum Mutat, 2020 Feb, PMID: 31680380 DOI: 10.1002/humu.23937
– Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
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
Hum Mutat, 2020 Jan, PMID: 31513310 DOI: 10.1002/humu.23915
– Early magnetic resonance imaging to detect presymptomatic leptomeningeal angioma in children with suspected Sturge-Weber syndrome.
Claire Bar,Jean-Michel Pedespan,Olivia Boccara,Nicolas Garcelon,Raphael Levy,David Grévent,Nathalie Boddaert,Rima Nabbout
Dev Med Child Neurol, 2020 Feb, PMID: 31050360 DOI: 10.1111/dmcn.1425
2019
– L’évaluation et les coûts des programmes de transition pour les jeunes atteints d’épilepsie.
Nabbout R, Arzimanoglou A, Chin RFM, Grinspan Z, Speechley K, Camfield P. The evaluation and costs of transition programs for youth with epilepsy.
Epilepsy Behav. 2019 Jan 6. pii: S1525-5050(18)31024-2. doi: 10.1016/j.yebeh.2018.12.014. PubMed PMID: 30626546
2018
– Comment la transition vers les soins pour adultes peut-elle être mieux orchestrée pour les adolescents épileptiques ?
Camfield PR, Andrade D, Camfield CS, Carrizosa-Moog J, Appleton R, Baulac M, Brown L, Menachem EB, Cross H, Desguerre I, Grant C, Hosny H, Jurasek L, Mula M, Pfäfflin M, Rheims S, Ring H, Shellhaas RA, Vinayan KP, Wirrell E, Nabbout R. How can transition to adult care be best orchestrated for adolescents with epilepsy?
Epilepsy Behav. 2019 Jan 11. pii: S1525-5050(18)31022-9. doi:10.1016/j.yebeh.2018.12.015. PubMed PMID: 30642688
– Troubles neuropsychiatriques associés à la TSC (TAND): résultats de l’étude d’histoire naturelle TOSCA.
de Vries PJ, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D’Amato L, d’Augères GB, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Kingswood JC, Lawson JA, Macaya A, Marques R, Nabbout R, O’Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC; TOSCA Consortium and TOSCA Investigators. TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study.
Orphanet J Rare Dis. 2018 Sep 10;13(1):157. doi:10.1186/s13023-018-0901-8. PubMed PMID: 30201051; PubMed Central PMCID: PMC6131901
2017
– Épilepsie: transition des soins pédiatriques aux soins pour adultes. Recommandations du groupe de travail sur la mise en œuvre de l’épilepsie en Ontario.
Andrade DM, Bassett AS, Bercovici E, Borlot F, Bui E, Camfield P, Clozza GQ, Cohen E, Gofine T, Graves L, Greenaway J, Guttman B, Guttman-Slater M, Hassan A, Henze M, Kaufman M, Lawless B, Lee H, Lindzon L, Lomax LB, McAndrews MP, Menna-Dack D, Minassian BA, Mulligan J, Nabbout R, Nejm T, Secco M, Sellers L, Shapiro M, Slegr M, Smith R, Szatmari P, Tao L, Vogt A, Whiting S, Carter Snead O 3rd. Epilepsy: Transition from pediatric to adult care. Recommendations of the Ontario epilepsy implementation task force.
Epilepsia. 2017 Sep;58(9):1502-1517. doi: 10.1111/epi.13832. Epub 2017 Jul 6. PubMed PMID: 28681381
– Besoin urgent de mettre en œuvre des programmes de transition.
Nabbout R. Urgent need to implement transition programs.
Epilepsy Behav. 2017 Aug;73:285. doi: 10.1016/j.yebeh.2017.04.013. Epub 2017 Jul 11. PubMed PMID: 28709815
– Résultats de l’épilepsie de l’enfance de l’adolescence à l’âge adulte: problèmes de transition.
Nabbout R, Andrade DM, Bahi-Buisson N, Cross H, Desquerre I, Dulac O, Granata T, Hirsch E, Navarro V, Ouss L, Pearl PL, Schmidt D, Thiele E, Camfield PR, Camfield CS. Outcome of childhood-onset epilepsy from adolescence to adulthood: Transition issues.
Epilepsy Behav. 2017 Apr;69:161-169. doi:10.1016/j.yebeh.2016.11.010. Epub 2017 Feb 28. Review. PubMed PMID: 28256379
– Problèmes de traitement des enfants épileptiques en transition vers des soins pour adultes.
Nabbout R, Camfield CS, Andrade DM, Arzimanoglou A, Chiron C, Cramer JA, French JA, Kossoff E, Mula M, Camfield PR.Treatment issues for children with epilepsy transitioning to adult care.
Epilepsy Behav. 2017 Apr;69:153-160. doi:10.1016/j.yebeh.2016.11.008. Epub 2017 Feb 8. Review. PubMed PMID: 2818804
– La transition des soins pédiatriques aux soins aux adultes pour les jeunes atteints d’épilepsie: problèmes biologiques, sociologiques et psychologiques fondamentaux.
Camfield P, Camfield C, Busiah K, Cohen D, Pack A, Nabbout R. The transition from pediatric to adult care for youth with epilepsy: Basic biological, sociological, and psychological issues.
Epilepsy Behav. 2017 Apr;69:170-176. doi:10.1016/j.yebeh.2016.11.009. Epub 2017 Jan 13. Review. PubMed PMID: 28089368
- Association Vanille-Fraise (Syndrome Sturge-Weber)
- Association sclérose tubéreuse de Bourneville
- Association contre les maladies mitochodriales (AMMI)
- Association sur le déficit en Glut1 (ASD GLUT1)
- Epilepsie France
- Epi Île de France
- Alliance syndrome de Dravet
- Fédération d’associations en faveur de personnes handicapées par des épilepsies sévères (EFAPPE)
- Paratonnerre
- Association française du syndrome d’Angelman (AFSA)
- Association française du syndrome de Rett (AFSR)
- Les enfants de West
- Association française de l’hémiplégie alternante (AFHA)
- PCDH19
- Association KCNB1 France
- Association JYL KCNT1
- CDKL5 Alliance Francophone
- Association SCN8A France
- Association Dup15q France
- Association France Lafora
- Nos enfants Menkes
- KCNQ2 FRANCE DEVELOPPEMENT
- Association Enfants CASK France (AECF)
- Association contre la maladie rare myoclonique d’Unverricht-Lundborg
- Association syndrome Aicardi
2023
Sturge-Weber syndrome: causes, symptoms, evolution, everything you need to know about this rare pathology
Doctissimo | 06.23.2023
A congenital vascular disease affecting the skin and nervous system, Sturge-Weber syndrome is characterized by abnormal growth of small blood vessels. It manifests as a flat angioma of the face, a leptomeningeal angioma and possible neurological damage. Prof. Rima Nabbout, pediatric neurologist and coordinator of the CRéER (Reference center for rare epilepsies) at the Necker-Enfants malades hospital, tells us more about the management of this rare pathology.
> Read more in French
Dravet syndrome: life expectancy? what is it?
Le journal des femmes Santé | 01.03.2023
Dravet syndrome is a rare genetic disease of children characterised by severe epilepsy starting before the age of one. The disease prevents autonomy in many areas of life, as well as conventional schooling.
> Read more in French
2022
Dravet syndrome: cause, life expectancy, what is it?
Le journal des femmes : Santé | 10.25.2022
Dravet syndrome is a neurogenetic disease characterized by severe epilepsy beginning before the first year of life and by neurodevelopmental disorders that strongly impact the lives of affected children and their parents.
> Read more in French
2021
Rare epilepsies, where are we?
Imagine Institute | 2.10.2021
On the occasion of International Epilepsy Day, experts in rare epilepsies at the Imagine Institute and at the AP-HP Necker-Enfants malades hospital took stock of the progress of research on these pathologies, their functioning, their causes and potential treatments.
> Read more in French
2019
Epilepsy Research Update
Imagine Institute | 3.26.2019
Epilepsy affects more than 500,000 people in France and in half of the cases it begins in childhood. On the occasion of World Epilepsy Day, Imagine takes stock of progress in this pathology.
> Read more in French
2016
Cannabis and epilepsy, hope in small steps
Le Figaro.fr SANTE | 1.8.2016
A clinical trial will verify the effectiveness of a drug containing cannabidiol against very severe epilepsies.
> Read more in French
2015
Epilepsies, a question of genes
Pourquoi Docteur | 10.7.2015
Genetic analysis is a promising avenue to better understand the different forms of epilepsy. More than 100 genes linked to the disease have already been discovered.
> Read more in French
2025
Friday, May 30, 2025 – 5th International KCNB1 Conference
Program coming soon
More information available on the KCNB1 France association website.
2024
September 25-27, 2024 – Workshop/Symposium: « How to improve the use of orphan drugs from pediatric to adulthood? »
As part of the work led by Prof. Rima Nabbout’s team, in close collaboration with the Rare Diseases Reference Center (CRMR) teams, special attention is being given to the transition and transfer of care for patients with developmental and epileptic encephalopathies (DEE) as they move into adult healthcare services. This process presents significant challenges, particularly due to the lack of awareness among adult practitioners regarding recently identified DEE with genetic etiologies, as well as the difficulty of ensuring multidisciplinary care that addresses cognitive, psychiatric, and motor disorders, alongside social, educational, and societal needs.
To tackle these challenges, a meeting was organized under the framework of the transition working group coordinated by Prof. Nabbout within the International League Against Epilepsy. This event brought together over 20 physicians and researchers, 8 patient associations, and 4 pharmaceutical industry representatives. Participants shared experiences and solutions to empower patients, families, and both pediatric and adult neurologists, aiming to ensure a smooth and coordinated transition.
These discussions laid the groundwork for improved collaboration among stakeholders and identified strategies for more tailored and effective care during this critical stage of the patient care journey.
July 2, 2024 – Innov4-ePiK: A New Approach for Developmental and Epileptic Encephalopathies
Coordinated by Institut Imagine (Inserm, AP-HP, Université Paris Cité), the Innov4-ePiK project aims to revolutionize the diagnosis and treatment of rare developmental and epileptic encephalopathies through 4P medicine (Personalized, Predictive, Preventive, Participatory).
Supported by €9.9 million in funding, it brings together 10 partners to develop diagnostic tools, biomarkers, and innovative therapies, offering personalized solutions for patients.
International KCNB1 Videoconference: « Families – Physicians – Researchers »
2023
March 11, 2023 – 3rd International KCNB1 Conference
2022
2021
March 6, 2021 – 1st International Conference on the KCNB1 Gene Mutation
On Saturday, March 6, 2021, the first International Conference on the KCNB1 Gene Mutation was held. More than 80 families from around the world joined to learn about the latest advancements in research.
Contact information
Necker-Enfants malades university hospital
> Department of pediatric neurology
149 rue de Sèvres
75743 PARIS Cedex 15
In Necker, the reference center for rare epilepsies (CRéER) in brief …
* data valid for 2022