Search Results - "Nabbout, R"

Updating Tuberous sclerosis complex care for pediatric neurologists by Van Bogaert, P., Nabbout, R.

“…Tuberous sclerosis complex (TSC) is an autosomal dominant disease that is rare but not exceptional, occurring with an estimated incidence between 1:6000 and…”
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Detection of seizure onset in childhood absence epilepsy by Aud'hui, M., Kachenoura, A., Yochum, M., Kaminska, A., Nabbout, R., Wendling, F., Kuchenbuch, M., Benquet, P.

“…•Early detection of the onset of childhood absence seizures is mandatory to deliver an external stimulation able to inhibit them.•An on-line process is…”
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Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients by Depienne, C, Trouillard, O, Saint-Martin, C, Gourfinkel-An, I, Bouteiller, D, Carpentier, W, Keren, B, Abert, B, Gautier, A, Baulac, S, Arzimanoglou, A, Cazeneuve, C, Nabbout, R, LeGuern, E

“…Mutations in the voltage-gated sodium channel SCN1A gene are the main genetic cause of Dravet syndrome (previously called severe myoclonic epilepsy of infancy…”
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Physician and patient satisfaction with the switch to remote outpatient encounters in epilepsy clinics during the Covid-19 pandemic by Teng, T., Sareidaki, D.E., Chemaly, N., Bar, C., Coste-Zeitoun, D., Kuchenbuch, M., Nabbout, R.

“…Analyzing parents’ and physicians’ opinions regarding phone-based encounters in emergency shifts of a French pediatric epilepsy center compared to traditional…”
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Interhemispheric coherence of EEG rhythms in children: Maturation and differentiation in corpus callosum dysgenesis by Guillou, J., Duprez, J., Nabbout, R., Kaminska, A., Napuri, S., Gomes, C., Kuchenbuch, M., Sauleau, P.

“…To evaluate the evolution of interhemispheric coherences (ICo) in background and spindle frequency bands during childhood and use it to identify individuals…”
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Arterial Spin-Labeling Perfusion Imaging in the Early Stage of Sturge-Weber Syndrome by Pouliquen, G, Fillon, L, Dangouloff-Ros, V, Kuchenbuch, M, Bar, C, Chemaly, N, Levy, R, Roux, C-J, Saitovitch, A, Boisgontier, J, Nabbout, R, Boddaert, N

“…Sturge-Weber syndrome is a rare congenital neuro-oculo-cutaneous disorder. Although the principal mechanism of Sturge-Weber syndrome is characterized by a…”
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The ‘Seal’ of Sir Shackleton by Cognat, E., Lilamand, M., Nabbout, R., Raynaud-Simon, A., Paquet, C.

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Dynamic changes of depolarizing GABA in a computational model of epileptogenic brain: Insight for Dravet syndrome by Kurbatova, P., Wendling, F., Kaminska, A., Rosati, A., Nabbout, R., Guerrini, R., Dulac, O., Pons, G., Cornu, C., Nony, P., Chiron, C., Benquet, P.

“…Abnormal reemergence of depolarizing GABAA current during postnatal brain maturation may play a major role in paediatric epilepsies, Dravet syndrome (DS) being…”
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Outcome of childhood-onset epilepsy from adolescence to adulthood: Transition issues by Nabbout, R, Andrade, D.M, Bahi-Buisson, N, Cross, H, Desquerre, I, Dulac, O, Granata, T, Hirsch, E, Navarro, V, Ouss, L, Pearl, P.L, Schmidt, D, Thiele, E, Camfield, P.R, Camfield, C.S

“…Abstract This is the second of three papers that summarize the second symposium on Transition in Epilepsies held in Paris in June 2016. This paper addresses…”
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Electro-clinical features in epileptic children with chromosome 15q duplication syndrome by Dangles, M.-T., Malan, V., Dumas, G., Romana, S., Raoul, O., Coste-Zeitoun, D., Soufflet, C., Vignolo-Diard, P., Bahi-Buisson, N., Barnérias, C., Chemaly, N., Desguerre, I., Gitiaux, C., Hully, M., Bourgeois, M., Guimier, A., Rio, M., Munnich, A., Nabbout, R., Kaminska, A., Eisermann, M.

“…•West or Lennox-Gastaut syndrome often occur in isodicentric chromosome 15q duplication.•Focal epilepsy often occurs in interstitial chromosome 15q…”
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Early detection of multiple retinal hamartomas during the follow-up of an infant diagnosed with tuberous sclerosis: Contribution of B-scan ultrasonography by Bunod, R., Abitbol, M., Nabbout, R., Bremond-Gignac, D.

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Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome by Depienne, Christel, Trouillard, Oriane, Gourfinkel-An, Isabelle, Saint-Martin, Cécile, Bouteiller, Delphine, Graber, Denis, Barthez-Carpentier, Marie-Anne, Gautier, Agnès, Villeneuve, Nathalie, Dravet, Charlotte, Livet, Marie-Odile, Rivier-Ringenbach, Clothilde, Adam, Claude, Dupont, Sophie, Baulac, Stéphanie, Héron, Delphine, Nabbout, Rima, Leguern, Eric

“…BACKGROUND Mutations in SCN1A can cause genetic epilepsy with febrile seizures plus (GEFS+, inherited missense mutations) or Dravet syndrome (DS, de novo…”
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Off-label use and manipulations of AEDs in pediatric: The experience of a tertiary epilepsy centre by Kuchenbuch, M, Henniene, M.B, Chemaly, N, Nabbout, R

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Diagnostic evaluation and management of seizures and status epilepticus in children with known epilepsy or new-onset seizures: A retrospective and comparative analysis by Le Coz, J., Chéron, G., Nabbout, R., Patteau, G., Heilbronner, C., Hubert, P., Renolleau, S., Oualha, M.

“…The purpose of this study was to describe and compare the initial management, including clinical/biological investigation and treatment, of new-onset seizures…”
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Antiepileptic treatment in Dravet syndrome: An additional complexity for the families by Dabaj, I, Coqué, N, Chemaly, N, Nabbout, R

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Mitochondrial disorders and epilepsy by Desguerre, I, Hully, M, Rio, M, Nabbout, R

“…Mitochondrial respiratory chain defects (RCD) often exhibit multiorgan involvement, affecting mainly tissues with high-energy requirements such as the brain…”
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Comprehensive molecular screening strategy of OCLN in band‐like calcification with simplified gyration and polymicrogyria by Jenkinson, E.M., Livingston, J.H., O'Driscoll, M.C., Desguerre, I., Nabbout, R., Boddaert, N., Soares, G., Gonçalves da Rocha, M., D'Arrigo, S., Rice, G.I., Crow, Y.J.

“…Occludin (OCLN) is an important component of the tight junction complex, providing apical intercellular connections between adjacent cells in endothelial and…”
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P56 – 3039: Off label and unlicensed use of AEDs in pediatric population: A retrospective study by Chemaly, N, Henniene, M.B, Kuchenbuch, M, Nabbout, R

“…Objective Since the first use of bromide as an anti epileptic drug (AED) and the introduction of the third generation AEDs in the early 90s, a continuous…”
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Sturge-Weber syndrome by Nabbout, R, Juhász, C

“…Sturge-Weber syndrome (SWS) is a rare sporadic neurocutaneous syndrome defined by the association of a facial capillary malformation in the ophthalmic…”
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Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy by NABBOUT, R, GENNARO, E, FONTANA, E, GAGGERO, R, GRANATA, T, GUERRINI, R, LOI, M, LA SELVA, L, LISPI, M. L, MATRICARDI, A, ROMEO, A, TZOLAS, V, DALLA BERNARDINA, B, VALSERIATI, D, VEGGIOTTI, P, VIGEVANO, F, VALLEE, L, DAGNA BRICARELLI, F, BIANCHI, A, ZARA, F, DULAC, O, MADIA, F, BERTINI, E, CAPOVILLA, G, CHIRON, C, CRISTOFORI, G, ELIA, M

“…SCN1A mutations were recently reported in several patients with severe myoclonic epilepsy in infancy (SMEI). The authors analyzed SCN1A mutations in 93…”
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