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)
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 childhood epileptic encephalopathy with burst suppression, Ohtahara
- Childhood partial epilepsy with migrating seizures
- West Syndrome
- Dravet syndrome
- Rare syndromic epilepsies in children
- Doose Syndrome
- Epileptic encephalopathy with continuous spike-waves from sleep EPOCS
- Epilepsy with myoclonic absences
- Lennox-Gastaut syndrome
- Myoclonic epilepsies
- Rare syndromic epilepsies in adults: TEA, Status epilepticus
- Rare monogenic epilepsies
- Benign familial neonatal seizures – KNCQ2 / 3 genes
- Benign infantile seizures – SCN2A genes
- Autosomal dominant nocturnal frontal epilepsy – CHRNA4 gene
- Focal focal epilepsies
- Rare epilepsies of chromosomal or genetic cause
- Angelman syndrome
- Ring chromosome 20 syndrome
- Microdeletal syndromes
- Rare epilepsies of metabolic cause
- Pyridoxin-dependent convulsion
- Hyperglycinemia without ketosis
- Menke’s disease
- Creatine deficiency – 150 cases, GLUT1 deficiency
- Rare epilepsies of structural cause: cortical dysplasia, polymicrogyria, heterotopias, hypothalamic hamartoma, hemimegalencephaly, rare neurodevelopmental tumors (DNET gangliomas)
- Phacomatosis: tuberous sclerosis of Bourneville
- Sturge Weber Syndrome
- Rare epilepsies of dysimmune origin
- Encephalitis with antineuronal antibodies – anti NMDA, LGI1, CASPR, GAD,
- Rasmussen’s disease
- Hemiconvulsion-hemiplegia-idiopathic epilepsy (HHE) syndrome
- Febrile infection-related epilepsy syndrome (FIRES)
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:
- 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 (in preparation)
- Bourneville Tuberous Sclerosis (in progress)
- Continuous wave peak sleep syndrome (POCS) (in preparation)
- Infant myoclonic epilepsy
- Sturge Weber Syndrome – co-authored with the rare diseases health sector FIMARAD (in preparation)
- 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
- 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
- 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
- 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: 28188045
- 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 sclérose tubéreuse de Bourneville
- Epilepsie France
- Alliance syndrome de Dravet
- Fédération d’associations en faveur de personnes handicapées par des épilepsies sévères
- Association française du syndrome d’Angelman
- Association française du syndrome de Rett
- Les enfants de West
- Association française de l’hémiplégie alternante
- Association Vanille-Fraise (Syndrome Sturge-Weber)
- Association KCNB1 France
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
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.
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.
September 21 and 22, 2020 : Epilepsy 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
In Necker, the CRéER reference center in brief …
* data valid for 2019