Rima Nabbout

Summary

Publications

  1. doi request reprint Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy
    Rima Nabbout
    Department of Pediatric Neurology, Centre de Référence Épilepsies Rares, Hôpital Necker Enfants Malades APHP, Paris, France
    Orphanet J Rare Dis 8:176. 2013
  2. doi request reprint FIRES and IHHE: Delineation of the syndromes
    Rima Nabbout
    Department of Pediatric Neurology, Referral Center for Rare Epilepsies, Necker Infants Maladies Hospital, APHP, 149 rue de Sevres, Paris, France
    Epilepsia 54:54-6. 2013
  3. doi request reprint Genetics of idiopathic epilepsies
    Rima Nabbout
    Department of Pediatric Neurology, Hôpital Necker Enfants Malades Centre de référence épilepsies rares INSERM U663, Paris, France Electronic address
    Handb Clin Neurol 111:567-78. 2013
  4. doi request reprint Epilepsy. Genetics of early-onset epilepsy with encephalopathy
    Rima Nabbout
    Centre de Référence Épilepsies Rares, Department of Neuropediatrics, INSERM U663, Universite Paris Descartes, Hopital Necker, 149 rue de Sevres, Paris, France
    Nat Rev Neurol 8:129-30. 2011
  5. doi request reprint Stiripentol: an example of antiepileptic drug development in childhood epilepsies
    Rima Nabbout
    Department of Pediatric Neurology, Centre de Reference des Epilepsies Rares, INSERM U663, Hopital Necker Enfants Malades, APHP, Paris Descartes University, Paris, France
    Eur J Paediatr Neurol 16:S13-7. 2012
  6. doi request reprint Autoimmune and inflammatory epilepsies
    Rima Nabbout
    Department of Pediatric Neurology, Reference Center for Rare Epilepsies, INSERM U663, Necker Enfants Malades Hospital, Paris, France
    Epilepsia 53:58-62. 2012
  7. doi request reprint Ketogenic diet also benefits Dravet syndrome patients receiving stiripentol: a prospective pilot study
    Rima Nabbout
    Department of Neuropediatrics, National Referral Center for Rare Epilepsies, Necker Enfants Malades Hospital, 149 rue de Sevres, Paris, France
    Epilepsia 52:e54-7. 2011
  8. ncbi request reprint New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p
    R Nabbout
    AP HP, Necker Enfants Malades Hospital, Neuropediatrics Department, Paris, France
    Neurology 68:1374-81. 2007
  9. doi request reprint Efficacy of ketogenic diet in severe refractory status epilepticus initiating fever induced refractory epileptic encephalopathy in school age children (FIRES)
    Rima Nabbout
    Department of Neuropediatrics, Centre de Référence Épilepsies Rares, Hopital Necker Enfants Malades, Paris, France
    Epilepsia 51:2033-7. 2010
  10. ncbi request reprint A locus for simple pure febrile seizures maps to chromosome 6q22-q24
    Rima Nabbout
    INSERM U289, Service de Neuro Pédiatrie, Hopital Saint Vincent de Paul, Paris, France
    Brain 125:2668-80. 2002

Detail Information

Publications47

  1. doi request reprint Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy
    Rima Nabbout
    Department of Pediatric Neurology, Centre de Référence Épilepsies Rares, Hôpital Necker Enfants Malades APHP, Paris, France
    Orphanet J Rare Dis 8:176. 2013
    ..Our objective was to prospectively analyze the neuropsychological features in a large cohort of DS patients and its relationships with epilepsy and SCN1A mutation...
  2. doi request reprint FIRES and IHHE: Delineation of the syndromes
    Rima Nabbout
    Department of Pediatric Neurology, Referral Center for Rare Epilepsies, Necker Infants Maladies Hospital, APHP, 149 rue de Sevres, Paris, France
    Epilepsia 54:54-6. 2013
    ....
  3. doi request reprint Genetics of idiopathic epilepsies
    Rima Nabbout
    Department of Pediatric Neurology, Hôpital Necker Enfants Malades Centre de référence épilepsies rares INSERM U663, Paris, France Electronic address
    Handb Clin Neurol 111:567-78. 2013
    ..Recognition of specific genetic epilepsy syndromes enables optimal treatment and prognostic and genetic counseling...
  4. doi request reprint Epilepsy. Genetics of early-onset epilepsy with encephalopathy
    Rima Nabbout
    Centre de Référence Épilepsies Rares, Department of Neuropediatrics, INSERM U663, Universite Paris Descartes, Hopital Necker, 149 rue de Sevres, Paris, France
    Nat Rev Neurol 8:129-30. 2011
    ..New molecular screening studies have identified causative mutations in patients with early-onset epilepsy with encephalopathy. What can we learn from the results of genetic screening in patients with this disorder?..
  5. doi request reprint Stiripentol: an example of antiepileptic drug development in childhood epilepsies
    Rima Nabbout
    Department of Pediatric Neurology, Centre de Reference des Epilepsies Rares, INSERM U663, Hopital Necker Enfants Malades, APHP, Paris Descartes University, Paris, France
    Eur J Paediatr Neurol 16:S13-7. 2012
    ..These analyses confirmed that the effects of STP cannot result from a simple pharmacokinetic interaction. We propose that the success of STP should serve as a model for AED development in rare pediatric epileptic syndromes...
  6. doi request reprint Autoimmune and inflammatory epilepsies
    Rima Nabbout
    Department of Pediatric Neurology, Reference Center for Rare Epilepsies, INSERM U663, Necker Enfants Malades Hospital, Paris, France
    Epilepsia 53:58-62. 2012
    ..We emphasize the electroclinical features that would help to diagnose these conditions, allowing early immunomodulating therapy. Finally, we raise some questions that remain unclear regarding diagnosis, mechanisms, and future therapies...
  7. doi request reprint Ketogenic diet also benefits Dravet syndrome patients receiving stiripentol: a prospective pilot study
    Rima Nabbout
    Department of Neuropediatrics, National Referral Center for Rare Epilepsies, Necker Enfants Malades Hospital, 149 rue de Sevres, Paris, France
    Epilepsia 52:e54-7. 2011
    ..This effect was reported in all responders and in a few nonresponders. KD might have a double effect, on seizure control and on hyperactivity and behavior disturbances in patients with DS...
  8. ncbi request reprint New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p
    R Nabbout
    AP HP, Necker Enfants Malades Hospital, Neuropediatrics Department, Paris, France
    Neurology 68:1374-81. 2007
    ..To report a clinical and genetic study of a large family with febrile seizures (FS) and childhood absence epilepsy (CAE)...
  9. doi request reprint Efficacy of ketogenic diet in severe refractory status epilepticus initiating fever induced refractory epileptic encephalopathy in school age children (FIRES)
    Rima Nabbout
    Department of Neuropediatrics, Centre de Référence Épilepsies Rares, Hopital Necker Enfants Malades, Paris, France
    Epilepsia 51:2033-7. 2010
    ..SE may last more than 1 month, and this condition may evolve into pharmacoresistant epilepsy associated with severe cognitive impairment. We aimed to report the effect of ketogenic diet (KD) in this condition...
  10. ncbi request reprint A locus for simple pure febrile seizures maps to chromosome 6q22-q24
    Rima Nabbout
    INSERM U289, Service de Neuro Pédiatrie, Hopital Saint Vincent de Paul, Paris, France
    Brain 125:2668-80. 2002
    ..The locus mapping to 6q22-q24 seems to be the first identified locus responsible for pure simple FS, the most frequent form of FS. Studies are ongoing to identify the gene...
  11. doi request reprint An unexpected EEG course in Dravet syndrome
    Rima Nabbout
    APHP, Necker Enfants Malades Hospital, Department of Neuropediatrics, Centre de Référence Épilepsies Rares, Paris, France
    Epilepsy Res 81:90-5. 2008
    ....
  12. ncbi request reprint Epileptic encephalopathies: a brief overview
    Rima Nabbout
    Department of Pediatrics, Hopital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
    J Clin Neurophysiol 20:393-7. 2003
    ..Treatment differs for all of these syndromes. It is important to avoid potential drug-induced worsening, and valproate is preferred when a definitive diagnosis is not reached in children and especially infants...
  13. ncbi request reprint Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy
    R Nabbout
    Département de Neuropédiatrie, Hopital Saint Vincent de Paul, AP HP, 82 avenue Denfert Rochereau, 75014 Paris, France
    Epilepsy Res 56:127-33. 2003
    ..Although MAE and SMEI share the same types of seizures, only SMEI patients are sensitive to fever. This is probably its main link to GEFS+. A different family of genes is likely to account for MAE...
  14. ncbi request reprint Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy
    R Nabbout
    Genethon III, Evry, France
    Neurology 60:1961-7. 2003
    ..The authors analyzed SCN1A mutations in 93 patients with SMEI and made genotype-phenotype correlation to clarify the role of this gene in the etiology of SMEI...
  15. doi request reprint CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy
    Rima Nabbout
    Service de Neurologie Pediatrique, Hopital Necker Enfants Malades, APHP, Universite Paris Descartes, Paris, France
    Epilepsy Res 87:25-30. 2009
    ....
  16. doi request reprint The three stages of epilepsy in patients with CDKL5 mutations
    Nadia Bahi-Buisson
    Departement de Pediatrie, Service de Neurologie Pediatrique, Hopital Necker Enfants Malades, AP HP, Paris V, Paris, France
    Epilepsia 49:1027-37. 2008
    ..So far, the electroclinical phenotype remains largely unknown and no clear genotype-phenotype correlations have been established...
  17. ncbi request reprint Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy
    Christel Depienne
    INSERM U679 formerly U289, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Hum Mutat 27:389. 2006
    ..The allele-specific PCR technique used in this study will be of use in detecting other such cases. These findings will have major consequences for the genetic counseling of asymptomatic parents with only one affected child...
  18. ncbi request reprint Spectrum of epilepsy in terminal 1p36 deletion syndrome
    Nadia Bahi-Buisson
    Department of Pediatric Neurology, Hopital Necker Enfants Malades, AP HP, Universite Paris V, Paris, France, and INSERM, U663, Paris, France
    Epilepsia 49:509-15. 2008
    ..Previous reports have summarized the seizures types occurring in 1p36 deletion syndrome. To better define the spectrum of epilepsy, we studied 91 patients (median age 7.8 years) with confirmed 1p36 deletion...
  19. doi request reprint Hemiconvulsion-hemiplegia syndrome revisited: longitudinal MRI findings in 10 children
    Giulia Barcia
    Reference Centre for Rare Epilepsies, Department of Paediatric Neurology, Hopital Necker Enfants Malades, APHP, Paris, France INSERM, U663, Paris, France University Paris Descartes, CEA, Gif sur Yvette, France
    Dev Med Child Neurol 55:1150-8. 2013
    ..HHS may occur either in patients with previous brain pathology or without any identified cause, so-called 'idiopathic HHS'...
  20. pmc Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females
    Christel Depienne
    Département de génétique et cytogénétique, Hopital de la Pitie Salpetriere, Paris, France
    Hum Mutat 32:E1959-75. 2011
    ..These results show that mutations in PCDH19 are a relatively frequent cause of epilepsy in females and should be considered even in absence of family history and/or mental retardation...
  21. ncbi request reprint Fever, genes, and epilepsy
    Stephanie Baulac
    Hopital Pitie Salpetriere, Paris, France
    Lancet Neurol 3:421-30. 2004
    ..The molecular defects identified in the genetic associations of FS and epileptic seizures are very attractive models to aid our understanding of epileptogenesis and susceptibility to seizure-provoking factors, especially fever...
  22. doi request reprint Epileptic syndromes in infancy and childhood
    Rima Nabbout
    Department of Neuropediatrics, Centre de Référence Épilepsies Rares, Hopital Necker Enfants Malades, APHP, Necker Enfants Malades, France
    Curr Opin Neurol 21:161-6. 2008
    ..The aim of this article is to review new epilepsy syndromes, acquire a new understanding of older ones and emphasize the impact of this concept on basic research regarding aetiology and treatment...
  23. ncbi request reprint Epilepsy in Menkes disease: analysis of clinical stages
    Nadia Bahi-Buisson
    Service de Maladies métaboliques et Neurologie Pédiatrique, Hopital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
    Epilepsia 47:380-6. 2006
    ..Epilepsy is one of the main features of Menkes disease (MD), although it is not described in depth. To determine the spectrum of epilepsy, we studied its main characteristics...
  24. ncbi request reprint Monogenic idiopathic epilepsies
    Isabelle Gourfinkel-An
    Unité d épileptologie, Assistace Publique Hôpitaux, and INSERM U 289, Hopital de la Pitie Salpetriere, Paris, France
    Lancet Neurol 3:209-18. 2004
    ..In this article, we review the clinical and genetic data on most of the idiopathic human epilepsies and epileptic contexts in which the association of epilepsy and febrile convulsions is genetically determined...
  25. ncbi request reprint Early seizures: causal events or predisposition to adult epilepsy?
    Olivier Dulac
    Department of Neuropaediatrics, APHP, Centre de Référence Épilepsies Rares, Necker Enfants Malades Hospital, Paris, France
    Lancet Neurol 6:643-51. 2007
    ..A developmental approach to seizure disorders will aid understanding of epilepsy in adults and improve the design of antiepileptic agents for children and adults...
  26. doi request reprint Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?
    Giulia Barcia
    Department of Neuropediatrics, Centre de Reference des Epilepsies Rares, Hopital Necker Enfants Malades, Paris Descartes University, Paris, France Inserm U663, University Paris Descartes, PRES Sorbonne Paris Cité, Paris F 75005 CEA, Neurospin, 91190 Gif Yvette, France
    Eur J Med Genet 57:15-20. 2014
    ..The course of the epilepsy was relatively benign. These clinical and neuroradiological features could orient the clinician in selecting patients' candidate to genetic testing for STXBP1 gene. ..
  27. doi request reprint Acute encephalopathy with inflammation-mediated status epilepticus
    Rima Nabbout
    Neuropaediatrics Department, Necker Hospital, APHP, Paris, INSERM U663, Paris, and Faculty of Medicine, Descartes University, Paris, France
    Lancet Neurol 10:99-108. 2011
    ..In addition to preliminary but encouraging clinical observations, there are theoretical reasons to consider the ketogenic diet as an early means to control both seizures and inflammation...
  28. pmc Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects
    Karine Poirier
    Institut Cochin, Universite Paris Descartes, CNRS UMR 8104, 24 rue du Faubourg St Jacques, Paris, France
    Hum Mol Genet 19:4462-73. 2010
    ....
  29. pmc Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females
    Christel Depienne
    Département de génétique et cytogénétique, AP HP, Fédération de Génétique, Hopital de la Salpetriere, Paris, France
    PLoS Genet 5:e1000381. 2009
    ..This disorder mainly affects females. The identification of an affected mosaic male strongly supports the hypothesis that cellular interference is the pathogenic mechanism...
  30. doi request reprint The management of infantile spasms
    Isabelle Desguerre
    APHP, Paediatric Neurology, Hopital Necker, Paris, France
    Arch Dis Child 93:462-3. 2008
  31. doi request reprint Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy
    Cécile Saint-Martin
    INSERM, U679 Neurologie et Thérapeutique Expérimentale, Paris, France
    Hum Mutat 30:397-405. 2009
    ..They may instead represent susceptibility factors among other so far undetected genetic alterations in the respective families...
  32. doi request reprint Early electro-clinical features may contribute to diagnosis of the anti-NMDA receptor encephalitis in children
    Cyril Gitiaux
    Service de Neurologie Pediatrique et Maladies Metaboliques, Hopital Necker Enfants Malades, Assistance Publique Hopitaux de Paris, Paris, France Service d explorations fonctionnelles, Laboratoire de Neurophysiologie Clinique, Hopital Necker Enfants Malades, Assistance Publique Hopitaux de Paris, Paris, France INSERM U1016 CNRS8104 Université Paris Descartes, Faculte de Medecine, Paris, France Electronic address
    Clin Neurophysiol 124:2354-61. 2013
    ..To describe initial and follow-up electroencephalographic (EEG) characteristics in anti-N-methyl-d-aspartate receptor (anti-NMDAR) encephalitis...
  33. doi request reprint A revisited strategy for antiepileptic drug development in children: designing an initial exploratory step
    Catherine Chiron
    INSERM, U663, Service de Neurologie et Metabolisme, Hopital Necker, 149 rue de Sevres, 75015, Paris, France
    CNS Drugs 27:185-95. 2013
    ....
  34. doi request reprint KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response
    Adam L Numis
    From the University of California A L N, J E S, M R C, San Francisco Central Hospital of Bolzano M A, Italy Kaiser Permanente of Northern California A J L University of Genoa P S, G Gaslini Institute, Italy and Paris Descartes University, Hôpital Necker Enfants Malades R N, Paris, France
    Neurology 82:368-70. 2014
    ..We describe a distinct electroclinical phenotype and report on efficacy of antiepileptic drug (AED) therapies. ..
  35. doi request reprint Transition and transfer from pediatric to adult health care in epilepsy: a families' survey on Dravet syndrome
    Mathieu Kuchenbuch
    Department of Pediatrics, University Hospital of Rennes, 35000 Rennes, France Department of Neurophysiology, University Hospital of Rennes, 35000 Rennes, France Centre de référence Epilepsies rares, APHP, Department of Pediatric Neurology, Necker Hospital, 75015 Paris, France
    Epilepsy Behav 29:161-5. 2013
    ..Child neurologists were considered as welcoming, available, and helpful. Their experience in the adult health-care system was similar to pediatric care. Almost all patients who experienced "transfer" reported no gap in this process. ..
  36. ncbi request reprint Parental view of epilepsy in Rett Syndrome
    Nadia Bahi-Buisson
    Service de Neuropédiatrie et Maladies, Assistance Publique Hopitaux de Paris, Métaboliques Hôpital Necker Enfants Malades, Paris, France
    Brain Dev 30:126-30. 2008
    ..Few instruments exist to measure the impact of epilepsy on the quality of life in Rett Syndrome (RS)...
  37. pmc De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy
    Giulia Barcia
    Department of Pediatric Neurology, Centre de Référence Épilepsies Rares, Hopital Necker Enfants Malades, Assistance Publique Hopitaux de Paris, France
    Nat Genet 44:1255-9. 2012
    ..These results provide a focus for future diagnostic approaches and research for this devastating condition...
  38. pmc Taurine deficiency is a cause of vigabatrin-induced retinal phototoxicity
    Firas Jammoul
    Institut National de la Sante et de la Recherche Medicale, U592, Institut de la Vision, Paris, France
    Ann Neurol 65:98-107. 2009
    ..The objective of this study was to investigate the light dependence of the vigabatrin-elicited retinal toxicity and to screen for molecules preventing this secondary effect of vigabatrin...
  39. doi request reprint A novel locus for generalized epilepsy with febrile seizures plus in French families
    Stephanie Baulac
    INSERM, UMR679, Neurologie and Thérapeutique Expérimentale, UPMC Univ Paris 06, Groupe Hospitalier Pitie Salpetriere, 47 Boulevard de l Hopital, 75013 Paris, France
    Arch Neurol 65:943-51. 2008
    ....
  40. ncbi request reprint Exploration of the genetic architecture of idiopathic generalized epilepsies
    Anne Hempelmann
    Gene Mapping Center, Max Delbruck Center, Berlin, Germany
    Epilepsia 47:1682-90. 2006
    ..The objective of the present study was to explore the genetic architecture of common IGE syndromes and to dissect out susceptibility loci predisposing to absence or myoclonic seizures...
  41. ncbi request reprint Linkage and mutational analysis of CLCN2 in childhood absence epilepsy
    Kate Everett
    General and Adolescent Paediatric Unit, Centre for Human Molecular Genetics, UCL Institute Child Health, University College London, The Rayne Building, 5 University Street, London WC1E 6JJ, UK
    Epilepsy Res 75:145-53. 2007
    ..We conclude that CLCN2 may be a susceptibility locus in a subset of cases of childhood absence epilepsy...
  42. ncbi request reprint Evaluation of CACNA1H in European patients with childhood absence epilepsy
    Barry Chioza
    Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College London, The Rayne Building, 5 University Street, London WC1E 6JJ, UK
    Epilepsy Res 69:177-81. 2006
    ..Linkage analysis of 44 pedigrees provided no evidence for a locus in the CACNA1H region and none of the Chinese variants were found in 220 unrelated patients...
  43. ncbi request reprint Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families
    Pasquale Striano
    Laboratory of Neurogenetics, Unit of Muscular and Neurodegenerative Disease, Istituto G Gaslini, University of Genova, Genova, and Division of Neurology, Ospedale Pediatrico Bambino Gesu, Roma, Italy
    Epilepsia 47:1029-34. 2006
    ..Infantile seizures also were in a family with familial hemiplegic migraine and mutations in the ATP1A2 gene. We have examined the heterogeneous genetics of BFIS by means of linkage analysis...
  44. pmc Linkage and association analysis of CACNG3 in childhood absence epilepsy
    Kate V Everett
    Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College London, London, UK
    Eur J Hum Genet 15:463-72. 2007
    ..No coding sequence variants were identified, although four variants are predicted to affect exonic splicing. This evidence supports CACNG3 as a susceptibility locus in a subset of CAE patients...
  45. ncbi request reprint Genetics of epilepsy: epilepsy research foundation workshop report
    Sanjay Sisodiya
    Epilepsy Research Foundation, United Kingdom
    Epileptic Disord 9:194-236. 2007
    ..Presentations and their matched discussions are produced here. There was optimism that further genetic research in epilepsy was not only feasible, but might lead to improvements in the lives of people with epilepsy...
  46. ncbi request reprint Can SCN1A mutations account for SUDEP?--Commentary on Hindocha et al
    Rima Nabbout
    Epilepsia 49:367-8. 2008
  47. ncbi request reprint Short-term nonhormonal and nonsteroid treatment in West syndrome
    Giuseppe Capovilla
    Department of Child Neuropsychiatry, C Poma Hospital, Mantova Department of Neurology, Bambino Gesu Children s Hospital, Rome
    Epilepsia 44:1085-8. 2003
    ..The aim of this retrospective multiinstitutional study was to evaluate the early discontinuation of nonhormonal and nonsteroid treatment for WS...