עקוב אחר
Rima Nabbout
Rima Nabbout
centre de refrence epilepsies rares, Necker enfants Malades, Imagine institute
כתובת אימייל מאומתת בדומיין aphp.fr
כותרת
צוטט על ידי
צוטט על ידי
שנה
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
16632017
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
15812013
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
8912013
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
6652016
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
6101997
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
5592015
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
5022012
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
4452009
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
3962009
Proposed consensus definitions for new‐onset refractory status epilepticus (NORSE), febrile infection‐related epilepsy syndrome (FIRES), and related conditions
LJ Hirsch, N Gaspard, A van Baalen, R Nabbout, S Demeret, ...
Epilepsia 59 (4), 739-744, 2018
3822018
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
3722010
International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions
N Specchio, EC Wirrell, IE Scheffer, R Nabbout, K Riney, P Samia, ...
Epilepsia 63 (6), 1398-1442, 2022
3532022
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
3482011
ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions
SM Zuberi, E Wirrell, E Yozawitz, JM Wilmshurst, N Specchio, K Riney, ...
Epilepsia 63 (6), 1349-1397, 2022
3392022
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
3352001
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
3272003
Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations
H Northrup, ME Aronow, EM Bebin, J Bissler, TN Darling, PJ de Vries, ...
Pediatric Neurology 123, 50-66, 2021
3152021
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
2922010
Fever, genes, and epilepsy
S Baulac, I Gourfinkel-An, R Nabbout, G Huberfeld, J Serratosa, ...
The lancet neurology 3 (7), 421-430, 2004
2902004
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
2812010
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