Rare epilepsies

French national reference center for rare epilepsies (CRéER)

The Reference Center for Rare Epilepsies (CRéER) at Necker-Enfants Malades Hospital is the coordinating site of the national network of centers dedicated to the care of patients with rare epilepsies. CREER is made up of several constituent sites and skills 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

Contact us
 

Phone. +33 (0)1 44 38 15 36

> Send an email

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.
En savoir +

Professor Rima Nabbout heads the epilepsies program, coordinates the CRéER sites and develops healthcare of excellence and research in order to carry out these missions for patients with rare epilepsies, in different areas of activity:

Pr Nabbout, Dr Chemaly, Dr Kaminska, Dr Coste Zeitoun, Dr Losito, Dr Bar
Dr Blauwblomme
Pr Boddaert and his pediatric radiology team
EEG, SEEG : Dr Kaminska, Dr Eisermann, Dr Soufflet, Dr Losito, Dr Coste Zeitoun
Mr. Teng
Mrs Breuillard
Dr Barcia
Pr Nabbout, Dr N Chemaly in collaboration with the Necker Clinical Investigation Center (CIC) (Pr Treluyer)
Pr Nabbout, Dr Blauwblomme, Dr Bar, Dr Kabashi in the Imagine team, Inserm UMR 1163 (Translational Research for Neurological Diseases)
  • 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

IUD epileptology

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

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

2020

Sclérose Tubéreuse CRéER

November 27, 2020 : Bourneville tuberous sclerosis scientific day: What’s new in 2020?

First remote meeting on the scientific news around the Bourneville tuberous sclerosis in 2020.
82 participants : Specialist and general practitioners, members of the French and Swiss Bourneville tuberous sclerosis association.
Connection with 5 countries : France, Switzerland, Italy, Chile, Belgium.
In France, 40 hospitals and structures connected : AP-HM Hôpital La Timone, AP-HP Hôpital Trousseau, Cabinet CCMN Neurologie, CAMSP de Saint-Denis, CHRU Lille, Centre de ressources handicaps rares épilepsies sévères FAHRES, CH Versailles, CHU Vaudois, CH Le Vinatier, CH René Dubos, CH Semur en Auxois, CH Victor Dupouy Argenteuil, CHRU Brest, CHRU Nancy, CHU Amiens, CHU Angers, CHU Besançon, AP-HP Hôpital Bicêtre, CHU Bordeaux, CHU Caen, CHU de Rennes, CHU de Saint Etienne, CHU Dijon, CHU Limoges, CHU Lyon, CHU Montpellier, CHU Reims, CHU Rennes, AP-HP Hôpital Robert-Debré, CHU Strasbourg, CHU Toulouse, ERHR Bretagne, établissement médical de la Teppe, FAM Broons, fondation Rothschild, AP-HP Hôpital Jean Verdier, AP-HP Hôpital Louis-Mourier, IEM Les coteaux, AP-HP Néonatalogie Port Royal, AP-HP Hôpital Pitié Salpétrière.

>> Program of the day

ESMS & Epilepsies

November 20, 2020 : ESMS (establishments and medical-social services) and epilepsy day

First remote meeting dedicated to rare epilepsy and patient care in ESMS (establishments and medical-social services).
32 registered with 22 centers: IME, CESAP, MAS, SSAD, EEAP, SESSAD, IEM, IMP, CAFS.
35 to 40 connected participants composed of: doctors (general practitioners, pediatrician, coordinator), nurses (coordination, general care), health executive, psychomotrician, occupational therapist, physiotherapist.

Feedback from participants :
« Thank you for this training day. « Dr. Aviva M.
« Thank you for your intervention. It was a really rich and instructive professional exchange. « Sophie C. coordinating nurse
« Glad to be able to participate in the next meeting  » Christine nurse
« Thank you again for this rewarding day! I will participate in the next one with great pleasure. « Corinne G. nurse
« I found this day particularly interesting. I attended the conference with Dr. B. who is on the MAS adjoining the EMP. I would like to attend this type of day or half day again. The video conference is, despite its heaviness and the fact that communication is not very spontaneous, a good solution for me. It is easier to implement (I am very part-time on several structures). As for the mobile team and teleconsultation, these resources can be really interesting and I will share this with the department head and the director of the structure. « Dr Céline R.
« Friday was indeed a very interesting day. « Dr. Natacha L.

>> Program of the day

Fans de l'epilepsie
Fans de l'epilepsie 2

September 21 and 22, 2020Epilepsy FANS 2020

The meeting of fans of epilepsy, days of discussion of clinical cases and collaborations within the CRéER network did not fail to the annual appointment, the 3rd Monday of September 2020.
Due to the health situation, this year’s meeting was held by videoconference and all the neuro-pediatricians were present!
The few technical problems were overcome somehow and the discussion was able to take place as usual.
The lunch quiz replaced dinner and Dr. Cécile Laroche won hands down!
Thank you to all the colleagues who were present and who made this event possible even from a distance!
See you next year in person at ….?
Candidate cities are expected!
My best regards and a big thank you to our nurse-coordinator, Mr. Théo Teng, who handled the logistics brilliantly!

Pr Rima Nabbout

>> Program of the 2 days

Contact information

Necker-Enfants malades university hospital
> Department of pediatric neurology
149 rue de Sèvres
75743 PARIS Cedex 15

> Pediatric welcome booklet

 In Necker, the reference center for rare epilepsies (CRéER) in brief 

0
patients followed at least once a year*
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medical consultations*
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day hospitalizations*
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patients in full hospitalization*
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authorized therapeutic education programs*
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patients trained in therapeutic education*
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current research projects*
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university courses*
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publications*

* data valid for 2020