Rima Nabbout Infantile Epilepsies & Brain Plasticity, INSERM U1129, PRES Paris Descartes University, Sorbonne Paris Cité, CEA Biography Publications Institution JoVE Articles Rima Nabbout has not added a biography. If you are Rima Nabbout and would like to personalize this page please email our Author Liaison for assistance. Publications Bringing the Transition of Epilepsy Care from Children to Adults out of the Shadows Epilepsia. Aug, 2014 | Pubmed ID: 25209088 Transition: Driving and Exercise Epilepsia. Aug, 2014 | Pubmed ID: 25209086 Transition in Adulthood: the Challenge of Epilepsies Epilepsia. Aug, 2014 | Pubmed ID: 25209076 Seizures and Epilepsy in Hypoglycaemia Caused by Inborn Errors of Metabolism Developmental Medicine and Child Neurology. Aug, 2014 | Pubmed ID: 25145506 Current Role of Rufinamide in the Treatment of Childhood Epilepsy: Literature Review and Treatment Guidelines European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society. May, 2014 | Pubmed ID: 24929673 Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness American Journal of Human Genetics. Jun, 2014 | Pubmed ID: 24814191 De Novo Mutations in HCN1 Cause Early Infantile Epileptic Encephalopathy Nature Genetics. Jun, 2014 | Pubmed ID: 24747641 Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-cerebellar Atrophy, and Intractable Seizures American Journal of Human Genetics. Apr, 2014 | Pubmed ID: 24656866 Mechanisms of Epileptogenesis in Pediatric Epileptic Syndromes: Rasmussen Encephalitis, Infantile Spasms, and Febrile Infection-related Epilepsy Syndrome (FIRES) Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics. Apr, 2014 | Pubmed ID: 24639375 Clinical Whole-genome Sequencing in Severe Early-onset Epilepsy Reveals New Genes and Improves Molecular Diagnosis Human Molecular Genetics. Jan, 2014 | Pubmed ID: 24463883 KCNQ2 Encephalopathy: Delineation of the Electroclinical Phenotype and Treatment Response Neurology. Jan, 2014 | Pubmed ID: 24371303 Genetic Heterogeneity in Malignant Migrating Partial Seizures of Infancy Annals of Neurology. Feb, 2014 | Pubmed ID: 24243345 Early Epileptic Encephalopathies Associated with STXBP1 Mutations: Could We Better Delineate the Phenotype? European Journal of Medical Genetics. Jan, 2014 | Pubmed ID: 24189369 Infant's Engagement and Emotion As Predictors of Autism or Intellectual Disability in West Syndrome European Child & Adolescent Psychiatry. Mar, 2014 | Pubmed ID: 23728914 Encephalopathy in Children with Dravet Syndrome is Not a Pure Consequence of Epilepsy Orphanet Journal of Rare Diseases. 2013 | Pubmed ID: 24225340 FIRES and IHHE: Delineation of the Syndromes Epilepsia. Sep, 2013 | Pubmed ID: 24001074 Transition and Transfer from Pediatric to Adult Health Care in Epilepsy: a Families' Survey on Dravet Syndrome Epilepsy & Behavior : E&B. Oct, 2013 | Pubmed ID: 23973640 Hemiconvulsion-hemiplegia Syndrome Revisited: Longitudinal MRI Findings in 10 Children Developmental Medicine and Child Neurology. Dec, 2013 | Pubmed ID: 23924283 Early Electro-clinical Features May Contribute to Diagnosis of the Anti-NMDA Receptor Encephalitis in Children Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology. Dec, 2013 | Pubmed ID: 23830005 Children Often Present with Infantile Spasms After Herpetic Encephalitis Epilepsia. Sep, 2013 | Pubmed ID: 23815601 Use of Dietary Therapy for Status Epilepticus Journal of Child Neurology. Aug, 2013 | Pubmed ID: 23640913 Regulation of ClC-2 Gating by Intracellular ATP Pflügers Archiv : European Journal of Physiology. Oct, 2013 | Pubmed ID: 23632988 Genetics of Idiopathic Epilepsies Handbook of Clinical Neurology. 2013 | Pubmed ID: 23622204 Experimental Designs for Small Randomised Clinical Trials: an Algorithm for Choice Orphanet Journal of Rare Diseases. 2013 | Pubmed ID: 23531234 Novel Compound Heterozygous Mutations in TBC1D24 Cause Familial Malignant Migrating Partial Seizures of Infancy Human Mutation. Jun, 2013 | Pubmed ID: 23526554 Management of Subependymal Giant Cell Astrocytoma (SEGA) Associated with Tuberous Sclerosis Complex (TSC): Clinical Recommendations European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society. Jul, 2013 | Pubmed ID: 23391693 A Revisited Strategy for Antiepileptic Drug Development in Children: Designing an Initial Exploratory Step CNS Drugs. Mar, 2013 | Pubmed ID: 23345029 Do Mutations in SCN1B Cause Dravet Syndrome? Epilepsy Research. Jan, 2013 | Pubmed ID: 23182416 [Epidemicology Des Epilepsies] La Revue Du Praticien. Dec, 2012 | Pubmed ID: 23424918 De Novo Gain-of-function KCNT1 Channel Mutations Cause Malignant Migrating Partial Seizures of Infancy Nature Genetics. Nov, 2012 | Pubmed ID: 23086397 Genome-wide Association Analysis of Genetic Generalized Epilepsies Implicates Susceptibility Loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 Human Molecular Genetics. Dec, 2012 | Pubmed ID: 22949513 Autoimmune and Inflammatory Epilepsies Epilepsia. Sep, 2012 | Pubmed ID: 22946722 Stiripentol: an Example of Antiepileptic Drug Development in Childhood Epilepsies European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society. Sep, 2012 | Pubmed ID: 22695038 Management of Epilepsy Associated with Tuberous Sclerosis Complex (TSC): Clinical Recommendations European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society. Nov, 2012 | Pubmed ID: 22695035 Epilepsy: MRI Follow-up in Paediatric Convulsive Status Epilepticus Nature Reviews. Neurology. May, 2012 | Pubmed ID: 22508226 Genome-wide Linkage Meta-analysis Identifies Susceptibility Loci at 2q34 and 13q31.3 for Genetic Generalized Epilepsies Epilepsia. Feb, 2012 | Pubmed ID: 22242659 Epilepsy. Genetics of Early-onset Epilepsy with Encephalopathy Nature Reviews. Neurology. 2011 | Pubmed ID: 22290576 Febrile Infection-related Epilepsy Syndrome (FIRES): Pathogenesis, Treatment, and Outcome: a Multicenter Study on 77 Children Epilepsia. Nov, 2011 | Pubmed ID: 21883180 Ketogenic Diet Also Benefits Dravet Syndrome Patients Receiving Stiripentol: a Prospective Pilot Study Epilepsia. Jul, 2011 | Pubmed ID: 21569025 The Genetics of Dravet Syndrome Epilepsia. Apr, 2011 | Pubmed ID: 21463275 Protocadherin 19 Mutations in Girls with Infantile-onset Epilepsy Neurology. Mar, 2011 | Pubmed ID: 21444909 Topiramate Pharmacokinetics in Infants and Young Children: Contribution of Population Analysis Epilepsy Research. Feb, 2011 | Pubmed ID: 21256717 Acute Encephalopathy with Inflammation-mediated Status Epilepticus The Lancet. Neurology. Jan, 2011 | Pubmed ID: 21163447 Mutations and Deletions in PCDH19 Account for Various Familial or Isolated Epilepsies in Females Human Mutation. Jan, 2011 | Pubmed ID: 21053371 Mutations in the Neuronal ß-tubulin Subunit TUBB3 Result in Malformation of Cortical Development and Neuronal Migration Defects Human Molecular Genetics. Nov, 2010 | Pubmed ID: 20829227 Efficacy of Ketogenic Diet in Severe Refractory Status Epilepticus Initiating Fever Induced Refractory Epileptic Encephalopathy in School Age Children (FIRES) Epilepsia. Oct, 2010 | Pubmed ID: 20813015 Genotypic and Phenotypic Spectrum of Pyridoxine-dependent Epilepsy (ALDH7A1 Deficiency) Brain : a Journal of Neurology. Jul, 2010 | Pubmed ID: 20554659 Mechanisms for Variable Expressivity of Inherited SCN1A Mutations Causing Dravet Syndrome Journal of Medical Genetics. Jun, 2010 | Pubmed ID: 20522430 Genome Wide High Density SNP-based Linkage Analysis of Childhood Absence Epilepsy Identifies a Susceptibility Locus on Chromosome 3p23-p14 Epilepsy Research. Dec, 2009 | Pubmed ID: 19837565 CDKL5 and ARX Mutations Are Not Responsible for Early Onset Severe Myoclonic Epilepsy in Infancy Epilepsy Research. Nov, 2009 | Pubmed ID: 19734009 SCN1A Duplications and Deletions Detected in Dravet Syndrome: Implications for Molecular Diagnosis Epilepsia. Jul, 2009 | Pubmed ID: 19400878 Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females PLoS Genetics. Feb, 2009 | Pubmed ID: 19214208 Taurine Deficiency is a Cause of Vigabatrin-induced Retinal Phototoxicity Annals of Neurology. Jan, 2009 | Pubmed ID: 19194884 The Ketogenic Diet Improves Recently Worsened Focal Epilepsy Developmental Medicine and Child Neurology. Apr, 2009 | Pubmed ID: 19191829 Two Novel CLCN2 Mutations Accelerating Chloride Channel Deactivation Are Associated with Idiopathic Generalized Epilepsy Human Mutation. Mar, 2009 | Pubmed ID: 19191339 A Case Report of a Family with Overlapping Features of Autosomal Dominant Febrile Seizures and GEFS+ Epilepsia. Apr, 2009 | Pubmed ID: 19054398 A Novel Locus for Generalized Epilepsy with Febrile Seizures Plus in French Families Archives of Neurology. Jul, 2008 | Pubmed ID: 18625863 An Unexpected EEG Course in Dravet Syndrome Epilepsy Research. Sep, 2008 | Pubmed ID: 18539001 Epileptic Syndromes in Infancy and Childhood Current Opinion in Neurology. Apr, 2008 | Pubmed ID: 18317274 The Three Stages of Epilepsy in Patients with CDKL5 Mutations Epilepsia. Jun, 2008 | Pubmed ID: 18266744 Can SCN1A Mutations Account for SUDEP?--Commentary on Hindocha Et Al Epilepsia. Feb, 2008 | Pubmed ID: 18251842 The Management of Infantile Spasms Archives of Disease in Childhood. Jun, 2008 | Pubmed ID: 18192314 Spectrum of Epilepsy in Terminal 1p36 Deletion Syndrome Epilepsia. Mar, 2008 | Pubmed ID: 18031548 Parental View of Epilepsy in Rett Syndrome Brain & Development. Feb, 2008 | Pubmed ID: 17707604 Early Seizures: Causal Events or Predisposition to Adult Epilepsy? The Lancet. Neurology. Jul, 2007 | Pubmed ID: 17582364 Linkage and Mutational Analysis of CLCN2 in Childhood Absence Epilepsy Epilepsy Research. Jul, 2007 | Pubmed ID: 17580110 Genetics of Epilepsy: Epilepsy Research Foundation Workshop Report Epileptic Disorders : International Epilepsy Journal with Videotape. Jun, 2007 | Pubmed ID: 17525034 Linkage and Association Analysis of CACNG3 in Childhood Absence Epilepsy European Journal of Human Genetics : EJHG. Apr, 2007 | Pubmed ID: 17264864 Exploration of the Genetic Architecture of Idiopathic Generalized Epilepsies Epilepsia. Oct, 2006 | Pubmed ID: 17054691 Linkage Analysis and Disease Models in Benign Familial Infantile Seizures: a Study of 16 Families Epilepsia. Jun, 2006 | Pubmed ID: 16822249 Parental Mosaicism Can Cause Recurrent Transmission of SCN1A Mutations Associated with Severe Myoclonic Epilepsy of Infancy Human Mutation. Apr, 2006 | Pubmed ID: 16541393 Evaluation of CACNA1H in European Patients with Childhood Absence Epilepsy Epilepsy Research. May, 2006 | Pubmed ID: 16504478 Epilepsy in Menkes Disease: Analysis of Clinical Stages Epilepsia. Feb, 2006 | Pubmed ID: 16499764 Fever, Genes, and Epilepsy The Lancet. Neurology. Jul, 2004 | Pubmed ID: 15207799 Monogenic Idiopathic Epilepsies The Lancet. Neurology. Apr, 2004 | Pubmed ID: 15039033 Epileptic Encephalopathies: a Brief Overview Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society. Nov-Dec, 2003 | Pubmed ID: 14734929 Short-term Nonhormonal and Nonsteroid Treatment in West Syndrome Epilepsia. Aug, 2003 | Pubmed ID: 12887441 A Locus for Simple Pure Febrile Seizures Maps to Chromosome 6q22-q24 Brain : a Journal of Neurology. Dec, 2002 | Pubmed ID: 12429594 人間のてんかん術後皮質組織の多電極アレイ録音 Elena Dossi1, Thomas Blauwblomme2,3, Rima Nabbout2,4, Gilles Huberfeld2,5, Nathalie Rouach1 1Neuroglial Interactions in Cerebral Physiopathology, Center for Interdisciplinary Research in Biology, CNRS UMR 7241, INSERM U1050, Collège de France, 2Infantile Epilepsies & Brain Plasticity, INSERM U1129, PRES, Paris Descartes University, Sorbonne Paris Cité, CEA, 3Neurosurgery Department, Necker Hospital, AP-HP, Paris Descartes University, 4Rare Epilepsies Reference Center, Necker Hospital, AP-HP, Paris Descartes University, 5Neurophysiology Department, La Pitié-Salpêtrière Hospital, AP-HP, Sorbonne and Pierre and Marie Curie University JoVE 51870 Medicine
人間のてんかん術後皮質組織の多電極アレイ録音 Elena Dossi1, Thomas Blauwblomme2,3, Rima Nabbout2,4, Gilles Huberfeld2,5, Nathalie Rouach1 1Neuroglial Interactions in Cerebral Physiopathology, Center for Interdisciplinary Research in Biology, CNRS UMR 7241, INSERM U1050, Collège de France, 2Infantile Epilepsies & Brain Plasticity, INSERM U1129, PRES, Paris Descartes University, Sorbonne Paris Cité, CEA, 3Neurosurgery Department, Necker Hospital, AP-HP, Paris Descartes University, 4Rare Epilepsies Reference Center, Necker Hospital, AP-HP, Paris Descartes University, 5Neurophysiology Department, La Pitié-Salpêtrière Hospital, AP-HP, Sorbonne and Pierre and Marie Curie University JoVE 51870 Medicine
