Rima Nabbout
Rima Nabbout
centre de refrence epilepsies rares, Necker enfants Malades, Imagine institute
Email verificata su aphp.fr
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Anno
Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
H Northrup, DA Krueger, S Roberds, K Smith, J Sampson, B Korf, ...
Pediatric neurology 49 (4), 243-254, 2013
11822013
Trial of cannabidiol for drug-resistant seizures in the Dravet syndrome
O Devinsky, JH Cross, L Laux, E Marsh, I Miller, R Nabbout, IE Scheffer, ...
New England Journal of Medicine 376 (21), 2011-2020, 2017
9992017
Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
DA Krueger, H Northrup, S Roberds, K Smith, J Sampson, B Korf, ...
Pediatric neurology 49 (4), 255-265, 2013
6852013
The right brain hemisphere is dominant in human infants.
C Chiron, I Jambaque, R Nabbout, R Lounes, A Syrota, O Dulac
Brain: a journal of neurology 120 (6), 1057-1065, 1997
5421997
Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled …
JA French, JA Lawson, Z Yapici, H Ikeda, T Polster, R Nabbout, ...
The Lancet 388 (10056), 2153-2163, 2016
4322016
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy
G Barcia, MR Fleming, A Deligniere, VR Gazula, MR Brown, M Langouet, ...
Nature genetics 44 (11), 1255-1259, 2012
3842012
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ...
American journal of medical genetics Part A 167 (2), 296-312, 2015
3642015
Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
C Depienne, D Bouteiller, B Keren, E Cheuret, K Poirier, O Trouillard, ...
PLoS genetics 5 (2), e1000381, 2009
3542009
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
C Depienne, O Trouillard, C Saint-Martin, I Gourfinkel-An, D Bouteiller, ...
Journal of medical genetics 46 (3), 183-191, 2009
3282009
The genetics of Dravet syndrome
C Marini, IE Scheffer, R Nabbout, A Suls, P De Jonghe, F Zara, R Guerrini
Epilepsia 52, 24-29, 2011
3092011
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy
R Nabbout, E Gennaro, B Dalla Bernardina, O Dulac, F Madia, E Bertini, ...
Neurology 60 (12), 1961-1967, 2003
3032003
Reviews of evidence regarding interventions to reduce tobacco use and exposure to environmental tobacco smoke
DP Hopkins, PA Briss, CJ Ricard, CG Husten, VG Carande-Kulis, ...
American journal of preventive medicine 20 (2), 16-66, 2001
3032001
Efficacy of ketogenic diet in severe refractory status epilepticus initiating fever induced refractory epileptic encephalopathy in school age children (FIRES)
R Nabbout, M Mazzuca, P Hubert, S Peudennier, C Allaire, V Flurin, ...
Epilepsia 51 (10), 2033-2037, 2010
2992010
Febrile infection–related epilepsy syndrome (FIRES): pathogenesis, treatment, and outcome: a multicenter study on 77 children
U Kramer, CS Chi, KL Lin, N Specchio, M Sahin, H Olson, R Nabbout, ...
Epilepsia 52 (11), 1956-1965, 2011
2582011
Fever, genes, and epilepsy
S Baulac, I Gourfinkel-An, R Nabbout, G Huberfeld, J Serratosa, ...
The lancet neurology 3 (7), 421-430, 2004
2492004
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)
PB Mills, EJ Footitt, KA Mills, K Tuschl, S Aylett, S Varadkar, C Hemingway, ...
Brain 133 (7), 2148-2159, 2010
2272010
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis
HC Martin, GE Kim, AT Pagnamenta, Y Murakami, GL Carvill, E Meyer, ...
Human molecular genetics 23 (12), 3200-3211, 2014
2262014
Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects
K Poirier, Y Saillour, N Bahi-Buisson, XH Jaglin, C Fallet-Bianco, ...
Human molecular genetics 19 (22), 4462-4473, 2010
2222010
Acute encephalopathy with inflammation-mediated status epilepticus
R Nabbout, A Vezzani, O Dulac, C Chiron
The Lancet Neurology 10 (1), 99-108, 2011
2062011
Mutations in ABHD12 cause the neurodegenerative disease PHARC: an inborn error of endocannabinoid metabolism
T Fiskerstrand, DHB Brahim, S Johansson, A M'zahem, BI Haukanes, ...
The American Journal of Human Genetics 87 (3), 410-417, 2010
1892010
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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