Rima Nabbout

Infantile Epilepsies & Brain Plasticity, Paris Descartes University, Sorbonne Paris Cité, CEA

Affiliated withParis Descartes University, Sorbonne Paris Cité, CEA Paris Descartes University

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title Cited by 24	2014

Other Publications

Article	Year
A locus for simple pure febrile seizures maps to chromosome 6q22-q24. Brain : a journal of neurology\| PubMed ID: 12429594	2002
Short-term nonhormonal and nonsteroid treatment in West syndrome. Epilepsia\| PubMed ID: 12887441	2003
Epileptic encephalopathies: a brief overview. Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society\| PubMed ID: 14734929	2003
Monogenic idiopathic epilepsies. The Lancet. Neurology\| PubMed ID: 15039033	2004
Fever, genes, and epilepsy. The Lancet. Neurology\| PubMed ID: 15207799	2004
Epilepsy in Menkes disease: analysis of clinical stages. Epilepsia\| PubMed ID: 16499764	2006
Evaluation of CACNA1H in European patients with childhood absence epilepsy. Epilepsy research\| PubMed ID: 16504478	2006
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. Human mutation\| PubMed ID: 16541393	2006
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families. Epilepsia\| PubMed ID: 16822249	2006
Exploration of the genetic architecture of idiopathic generalized epilepsies. Epilepsia\| PubMed ID: 17054691	2006
Linkage and association analysis of CACNG3 in childhood absence epilepsy. European journal of human genetics : EJHG\| PubMed ID: 17264864	2007
Genetics of epilepsy: epilepsy research foundation workshop report. Epileptic disorders : international epilepsy journal with videotape\| PubMed ID: 17525034	2007
Linkage and mutational analysis of CLCN2 in childhood absence epilepsy. Epilepsy research\| PubMed ID: 17580110	2007
Early seizures: causal events or predisposition to adult epilepsy? The Lancet. Neurology\| PubMed ID: 17582364	2007
Parental view of epilepsy in Rett Syndrome. Brain & development\| PubMed ID: 17707604	2008
Spectrum of epilepsy in terminal 1p36 deletion syndrome. Epilepsia\| PubMed ID: 18031548	2008
The management of infantile spasms. Archives of disease in childhood\| PubMed ID: 18192314	2008
Can SCN1A mutations account for SUDEP?--Commentary on Hindocha et al. Epilepsia\| PubMed ID: 18251842	2008
The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia\| PubMed ID: 18266744	2008
Epileptic syndromes in infancy and childhood. Current opinion in neurology\| PubMed ID: 18317274	2008
An unexpected EEG course in Dravet syndrome. Epilepsy research\| PubMed ID: 18539001	2008
A novel locus for generalized epilepsy with febrile seizures plus in French families. Archives of neurology\| PubMed ID: 18625863	2008
A case report of a family with overlapping features of autosomal dominant febrile seizures and GEFS+. Epilepsia\| PubMed ID: 19054398	2009
Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. Human mutation\| PubMed ID: 19191339	2009
The ketogenic diet improves recently worsened focal epilepsy. Developmental medicine and child neurology\| PubMed ID: 19191829	2009
Taurine deficiency is a cause of vigabatrin-induced retinal phototoxicity. Annals of neurology\| PubMed ID: 19194884	2009
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS genetics\| PubMed ID: 19214208	2009
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia\| PubMed ID: 19400878	2009
CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy. Epilepsy research\| PubMed ID: 19734009	2009
Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14. Epilepsy research\| PubMed ID: 19837565	2009
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. Journal of medical genetics\| PubMed ID: 20522430	2010
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain : a journal of neurology\| PubMed ID: 20554659	2010
Efficacy of ketogenic diet in severe refractory status epilepticus initiating fever induced refractory epileptic encephalopathy in school age children (FIRES). Epilepsia\| PubMed ID: 20813015	2010
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. Human molecular genetics\| PubMed ID: 20829227	2010
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. Human mutation\| PubMed ID: 21053371	2011
Acute encephalopathy with inflammation-mediated status epilepticus. The Lancet. Neurology\| PubMed ID: 21163447	2011
Topiramate pharmacokinetics in infants and young children: contribution of population analysis. Epilepsy research\| PubMed ID: 21256717	2011
Protocadherin 19 mutations in girls with infantile-onset epilepsy. Neurology\| PubMed ID: 21444909	2011
The genetics of Dravet syndrome. Epilepsia\| PubMed ID: 21463275	2011
Ketogenic diet also benefits Dravet syndrome patients receiving stiripentol: a prospective pilot study. Epilepsia\| PubMed ID: 21569025	2011
Febrile infection-related epilepsy syndrome (FIRES): pathogenesis, treatment, and outcome: a multicenter study on 77 children. Epilepsia\| PubMed ID: 21883180	2011
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies. Epilepsia\| PubMed ID: 22242659	2012
Epilepsy. Genetics of early-onset epilepsy with encephalopathy. Nature reviews. Neurology\| PubMed ID: 22290576	2011
Epilepsy: MRI follow-up in paediatric convulsive status epilepticus. Nature reviews. Neurology\| PubMed ID: 22508226	2012
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\| PubMed ID: 22695035	2012
Stiripentol: an example of antiepileptic drug development in childhood epilepsies. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society\| PubMed ID: 22695038	2012
Autoimmune and inflammatory epilepsies. Epilepsia\| PubMed ID: 22946722	2012
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. Human molecular genetics\| PubMed ID: 22949513	2012
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nature genetics\| PubMed ID: 23086397	2012
Do mutations in SCN1B cause Dravet syndrome? Epilepsy research\| PubMed ID: 23182416	2013
A revisited strategy for antiepileptic drug development in children: designing an initial exploratory step. CNS drugs\| PubMed ID: 23345029	2013
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\| PubMed ID: 23391693	2013
[Epidemicology des epilepsies]. La Revue du praticien\| PubMed ID: 23424918	2012
Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. Human mutation\| PubMed ID: 23526554	2013
Experimental designs for small randomised clinical trials: an algorithm for choice. Orphanet journal of rare diseases\| PubMed ID: 23531234	2013
Genetics of idiopathic epilepsies. Handbook of clinical neurology\| PubMed ID: 23622204	2013
Regulation of ClC-2 gating by intracellular ATP. Pflügers Archiv : European journal of physiology\| PubMed ID: 23632988	2013
Use of dietary therapy for status epilepticus. Journal of child neurology\| PubMed ID: 23640913	2013
Infant's engagement and emotion as predictors of autism or intellectual disability in West syndrome. European child & adolescent psychiatry\| PubMed ID: 23728914	2014
Children often present with infantile spasms after herpetic encephalitis. Epilepsia\| PubMed ID: 23815601	2013
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\| PubMed ID: 23830005	2013
Hemiconvulsion-hemiplegia syndrome revisited: longitudinal MRI findings in 10 children. Developmental medicine and child neurology\| PubMed ID: 23924283	2013
Transition and transfer from pediatric to adult health care in epilepsy: a families' survey on Dravet syndrome. Epilepsy & behavior : E&B\| PubMed ID: 23973640	2013
FIRES and IHHE: Delineation of the syndromes. Epilepsia\| PubMed ID: 24001074	2013
Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype? European journal of medical genetics\| PubMed ID: 24189369	2014
Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy. Orphanet journal of rare diseases\| PubMed ID: 24225340	2013
Genetic heterogeneity in malignant migrating partial seizures of infancy. Annals of neurology\| PubMed ID: 24243345	2014
KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response. Neurology\| PubMed ID: 24371303	2014
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. Human molecular genetics\| PubMed ID: 24463883	2014
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\| PubMed ID: 24639375	2014
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. American journal of human genetics\| PubMed ID: 24656866	2014
De novo mutations in HCN1 cause early infantile epileptic encephalopathy. Nature genetics\| PubMed ID: 24747641	2014
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. American journal of human genetics\| PubMed ID: 24814191	2014
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\| PubMed ID: 24929673	2014
Seizures and epilepsy in hypoglycaemia caused by inborn errors of metabolism. Developmental medicine and child neurology\| PubMed ID: 25145506	2014
Transition in adulthood: the challenge of epilepsies. Epilepsia\| PubMed ID: 25209076	2014
Transition: driving and exercise. Epilepsia\| PubMed ID: 25209086	2014
Bringing the transition of epilepsy care from children to adults out of the shadows. Epilepsia\| PubMed ID: 25209088	2014