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Marcel S Prudente, Letícia R Davi, Kemilly O Nabbout, Célio J Prado, Leandro M Pereira, Karla Zancopé, Flávio D Neves
STATEMENT OF PROBLEM: The manufacturers of computer-aided design and computer-aided manufacturing (CAD-CAM) systems emphasize that new technologies can improve the marginal fit of dental crowns. However, data supporting this claim are limited. PURPOSE: The purpose of this in vitro study was to investigate the differences among the following fabrication methods on the marginal discrepancy of dental crowns: intraoral optical scanners, powder application, and adjustments of intaglio surface...
March 2018: Journal of Prosthetic Dentistry
Thomas E Witzig, Patrick B Johnston, Betsy R LaPlant, Paul J Kurtin, Levi D Pederson, Dennis F Moore, Nassim H Nabbout, Daniel A Nikcevich, Kendrith M Rowland, Axel Grothey
Patients with relapsed aggressive non-Hodgkin lymphoma (NHL) are often treated with platinum-based chemoimmunotherapy regimens in preparation for autologous stem cell transplant. We sought to reduce toxicity and maintain efficacy by using oxaliplatin with rituximab, cytarabine and dexamethasone (ROAD) in a phase II clinical trial in patients who had relapsed after one prior regimen. ROAD was delivered q21 days and consisted of rituximab 375 mg/m2 IV weekly x 4 doses (cycle 1 only); dexamethasone 40 mg PO/IV d2 - 5; oxaliplatin 130 mg/m2 IV day 2; cytarabine 2000 mg/m2 IV × two doses on days 2 to 3; and pegfilgrastim 6 mg SC on day 4...
October 2017: American Journal of Hematology
R Nabbout, D M Andrade, N Bahi-Buisson, H Cross, I Desquerre, O Dulac, T Granata, E Hirsch, V Navarro, L Ouss, P L Pearl, D Schmidt, E Thiele, P R Camfield, C S Camfield
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 the outcome for some particularly challenging childhood-onset epileptic disorders with the goal of recommending the best approach to transition. We have grouped these disorders in five categories with a few examples for each. The first group includes disorders presenting in childhood that may have late- or adult-onset epilepsy (metabolic and mitochondrial disorders)...
April 2017: Epilepsy & Behavior: E&B
Rima Nabbout, Carol S Camfield, Danielle M Andrade, Alexis Arzimanoglou, Catherine Chiron, Joyce A Cramer, Jacqueline A French, Eric Kossoff, Marco Mula, Peter R Camfield
This is the third of three papers that summarize the second symposium on Transition in Epilepsies held in Paris in June 2016. This paper focuses on treatment issues that arise during the course of childhood epilepsy and make the process of transition to adult care more complicated. Some AEDs used during childhood, such as stiripentol, vigabatrin, and cannabidiol, are unfamiliar to adult epilepsy specialists. In addition, new drugs are being developed for treatment of specific childhood onset epilepsy syndromes and have no indication yet for adults...
April 2017: Epilepsy & Behavior: E&B
M K Garg, F Zhao, J Lee, J Sparano, J Palefsky, D Henry, W Wachsman, L Rajdev, D Aboulafia, E Mitchell, A Onitilo, B El-Rayes, N Nabbout, T Fitzgerald, R Mitsuyasu, A B Benson, L A Kachnic
No abstract text is available yet for this article.
October 1, 2016: International Journal of Radiation Oncology, Biology, Physics
Matthew R Fleming, Maile R Brown, Jack Kronengold, Yalan Zhang, David P Jenkins, Gulia Barcia, Rima Nabbout, Anne E Bausch, Peter Ruth, Robert Lukowski, Dhasakumar S Navaratnam, Leonard K Kaczmarek
Human mutations in the cytoplasmic C-terminal domain of Slack sodium-activated potassium (KNa) channels result in childhood epilepsy with severe intellectual disability. Slack currents can be increased by pharmacological activators or by phosphorylation of a Slack C-terminal residue by protein kinase C. Using an optical biosensor assay, we find that Slack channel stimulation in neurons or transfected cells produces loss of mass near the plasma membrane. Slack mutants associated with intellectual disability fail to trigger any change in mass...
August 30, 2016: Cell Reports
(no author information available yet)
No abstract text is available yet for this article.
June 2016: Annals of Intensive Care
P Kurbatova, F Wendling, A Kaminska, A Rosati, R Nabbout, R Guerrini, O Dulac, G Pons, C Cornu, P Nony, C Chiron, P Benquet
Abnormal reemergence of depolarizing GABAA current during postnatal brain maturation may play a major role in paediatric epilepsies, Dravet syndrome (DS) being among the most severe. To study the impact of depolarizing GABA onto distinct patterns of EEG activity, we extended a neural mass model as follows: one sub-population of pyramidal cells was added as well as two sub-populations of interacting interneurons, perisomatic-projecting interneurons (basket-like) with fast synaptic kinetics GABAA (fast, I1) and dendritic-projecting interneurons with slow synaptic kinetics GABAA (slow, I2)...
September 2016: Experimental Neurology
Delphine Breuillard, Dorothée Leunen, Nicole Chemaly, Laurent Auclair, Jean Marc Pinard, Anna Kaminska, Isabelle Desguerre, Lisa Ouss, Rima Nabbout
INTRODUCTION: Autism features and various degrees of cognitive deficit are reported in patients with PCDH-19 mutations and epilepsy. Autism spectrum disorder (ASD) and, often, cognitive profile are usually assessed clinically. We studied autism phenotype and cognitive outcome in a series of patients using standardized tools for development and ASD. We aimed to describe the phenotype of ASD in this series and to understand whether ASD is strictly linked to intellectual disability (ID) or is present as a comorbidity...
July 2016: Epilepsy & Behavior: E&B
Yanick J Crow, Diana S Chase, Johanna Lowenstein Schmidt, Marcin Szynkiewicz, Gabriella M A Forte, Hannah L Gornall, Anthony Oojageer, Beverley Anderson, Amy Pizzino, Guy Helman, Mohamed S Abdel-Hamid, Ghada M Abdel-Salam, Sam Ackroyd, Alec Aeby, Guillermo Agosta, Catherine Albin, Stavit Allon-Shalev, Montse Arellano, Giada Ariaudo, Vijay Aswani, Riyana Babul-Hirji, Eileen M Baildam, Nadia Bahi-Buisson, Kathryn M Bailey, Christine Barnerias, Magalie Barth, Roberta Battini, Michael W Beresford, Geneviève Bernard, Marika Bianchi, Thierry Billette de Villemeur, Edward M Blair, Miriam Bloom, Alberto B Burlina, Maria Luisa Carpanelli, Daniel R Carvalho, Manuel Castro-Gago, Anna Cavallini, Cristina Cereda, Kate E Chandler, David A Chitayat, Abigail E Collins, Concepcion Sierra Corcoles, Nuno J V Cordeiro, Giovanni Crichiutti, Lyvia Dabydeen, Russell C Dale, Stefano D'Arrigo, Christian G E L De Goede, Corinne De Laet, Liesbeth M H De Waele, Ines Denzler, Isabelle Desguerre, Koenraad Devriendt, Maja Di Rocco, Michael C Fahey, Elisa Fazzi, Colin D Ferrie, António Figueiredo, Blanca Gener, Cyril Goizet, Nirmala R Gowrinathan, Kalpana Gowrishankar, Donncha Hanrahan, Bertrand Isidor, Bülent Kara, Nasaim Khan, Mary D King, Edwin P Kirk, Ram Kumar, Lieven Lagae, Pierre Landrieu, Heinz Lauffer, Vincent Laugel, Roberta La Piana, Ming J Lim, Jean-Pierre S-M Lin, Tarja Linnankivi, Mark T Mackay, Daphna R Marom, Charles Marques Lourenço, Shane A McKee, Isabella Moroni, Jenny E V Morton, Marie-Laure Moutard, Kevin Murray, Rima Nabbout, Sheela Nampoothiri, Noemi Nunez-Enamorado, Patrick J Oades, Ivana Olivieri, John R Ostergaard, Belén Pérez-Dueñas, Julie S Prendiville, Venkateswaran Ramesh, Magnhild Rasmussen, Luc Régal, Federica Ricci, Marlène Rio, Diana Rodriguez, Agathe Roubertie, Elisabetta Salvatici, Karin A Segers, Gyanranjan P Sinha, Doriette Soler, Ronen Spiegel, Tommy I Stödberg, Rachel Straussberg, Kathryn J Swoboda, Mohnish Suri, Uta Tacke, Tiong Y Tan, Johann te Water Naude, Keng Wee Teik, Maya Mary Thomas, Marianne Till, Davide Tonduti, Enza Maria Valente, Rudy Noel Van Coster, Marjo S van der Knaap, Grace Vassallo, Raymon Vijzelaar, Julie Vogt, Geoffrey B Wallace, Evangeline Wassmer, Hannah J Webb, William P Whitehouse, Robyn N Whitney, Maha S Zaki, Sameer M Zuberi, John H Livingston, Flore Rozenberg, Pierre Lebon, Adeline Vanderver, Simona Orcesi, Gillian I Rice
Aicardi-Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 patients from 299 families with mutations in these seven genes. Most patients conformed to one of two fairly stereotyped clinical profiles; either exhibiting an in utero disease-onset (74 patients; 22.8% of all patients where data were available), or a post-natal presentation, usually within the first year of life (223 patients; 68.6%), characterized by a sub-acute encephalopathy and a loss of previously acquired skills...
February 2015: American Journal of Medical Genetics. Part A
I Desguerre, M Hully, M Rio, R Nabbout
INTRODUCTION: Mitochondrial respiratory chain defects (RCD) often exhibit multiorgan involvement, affecting mainly tissues with high-energy requirements such as the brain. Epilepsy is frequent during the evolution of mitochondrial disorders (30%) with different presentation in childhood and adulthood in term of type of epilepsy, of efficacy of treatment and also in term of prognosis. STATE OF ART: Mitochondrial disorders can begin at any age but the diseases with early onset during childhood have generally severe or fatal outcome in few years...
May 2014: Revue Neurologique
Xiaochang Zhang, Jiqiang Ling, Giulia Barcia, Lili Jing, Jiang Wu, Brenda J Barry, Ganeshwaran H Mochida, R Sean Hill, Jill M Weimer, Quinn Stein, Annapurna Poduri, Jennifer N Partlow, Dorothée Ville, Olivier Dulac, Tim W Yu, Anh-Thu N Lam, Sarah Servattalab, Jacqueline Rodriguez, Nathalie Boddaert, Arnold Munnich, Laurence Colleaux, Leonard I Zon, Dieter Söll, Christopher A Walsh, Rima Nabbout
Progressive microcephaly is a heterogeneous condition with causes including mutations in genes encoding regulators of neuronal survival. Here, we report the identification of mutations in QARS (encoding glutaminyl-tRNA synthetase [QARS]) as the causative variants in two unrelated families affected by progressive microcephaly, severe seizures in infancy, atrophy of the cerebral cortex and cerebellar vermis, and mild atrophy of the cerebellar hemispheres. Whole-exome sequencing of individuals from each family independently identified compound-heterozygous mutations in QARS as the only candidate causative variants...
April 3, 2014: American Journal of Human Genetics
Hilary C Martin, Grace E Kim, Alistair T Pagnamenta, Yoshiko Murakami, Gemma L Carvill, Esther Meyer, Richard R Copley, Andrew Rimmer, Giulia Barcia, Matthew R Fleming, Jack Kronengold, Maile R Brown, Karl A Hudspith, John Broxholme, Alexander Kanapin, Jean-Baptiste Cazier, Taroh Kinoshita, Rima Nabbout, David Bentley, Gil McVean, Sinéad Heavin, Zenobia Zaiwalla, Tony McShane, Heather C Mefford, Deborah Shears, Helen Stewart, Manju A Kurian, Ingrid E Scheffer, Edward Blair, Peter Donnelly, Leonard K Kaczmarek, Jenny C Taylor
In severe early-onset epilepsy, precise clinical and molecular genetic diagnosis is complex, as many metabolic and electro-physiological processes have been implicated in disease causation. The clinical phenotypes share many features such as complex seizure types and developmental delay. Molecular diagnosis has historically been confined to sequential testing of candidate genes known to be associated with specific sub-phenotypes, but the diagnostic yield of this approach can be low. We conducted whole-genome sequencing (WGS) on six patients with severe early-onset epilepsy who had previously been refractory to molecular diagnosis, and their parents...
June 15, 2014: Human Molecular Genetics
Adam L Numis, Marco Angriman, Joseph E Sullivan, Ann J Lewis, Pasquale Striano, Rima Nabbout, Maria R Cilio
Neonatal-onset epilepsies are rare conditions, mostly genetically determined, that can have a benign or severe phenotype.(1,2) There is recent recognition of de novo KCNQ2 mutations in patients with severe neonatal-onset epilepsy with intractable seizures and severe psychomotor impairment, termed KCNQ2 encephalopathy.(3,4) This is a rare condition and all patients reported so far were diagnosed well after the neonatal period.(3,4) We report on 3 new cases of KCNQ2 encephalopathy diagnosed in the neonatal period and studied with continuous video-EEG recording...
January 28, 2014: Neurology
Rima Nabbout, Nicole Chemaly, Mathilde Chipaux, Giulia Barcia, Charles Bouis, Celia Dubouch, Dorothee Leunen, Isabelle Jambaqué, Olivier Dulac, Georges Dellatolas, Catherine Chiron
BACKGROUND: Dravet syndrome (DS) is currently considered as an epileptic encephalopathy, a condition in which epilepsy causes deterioration or developmental delay but preliminary data suggested that cognitive course may worsen independently from epilepsy. Our objective was to prospectively analyze the neuropsychological features in a large cohort of DS patients and its relationships with epilepsy and SCN1A mutation. METHODS: 81 examinations were performed in 67 patients with typical DS (9m-24y, 15 longitudinally studied) using Brunet-Lezine (developmental/intelligence quotient [DQ/IQ] and DQ sub-scores), Achenbach, Conners, and a semi-quantitative psychomotor score (SQPS)...
November 13, 2013: Orphanet Journal of Rare Diseases
G Barcia, C Barnerias, M Rio, K Siquier-Pernet, I Desguerre, L Colleaux, A Munnich, A Rotig, R Nabbout
STXBP1 (MUNC18.1), encoding syntaxin binding protein 1, has been reported in Ohtahara syndrome, a rare epileptic encephalopathy with suppression burst pattern on EEG, in patients with infantile spasms and in a few patients with nonsyndromic mental retardation without epilepsy. We report a patient who presented late onset infantile spasms. Epilepsy was controlled but the patient developed severe mental delay. A first diagnosis of mitochondrial disease was based on clinical presentation and on a partial deficit of respiratory chain complex IV, but molecular screening for mitochondrial genes was negative...
December 2013: European Journal of Medical Genetics
R Nabbout, C Juhász
Sturge-Weber syndrome (SWS) is a rare sporadic neurocutaneous syndrome defined by the association of a facial capillary malformation in the ophthalmic distribution of the trigeminal nerve, with ipsilateral vascular glaucoma and vascular malformation of the eye, and a leptomeningeal angioma. SWS is suspected at birth in the presence of facial angioma in the trigeminal nerve area. MRI with gadolinium enhancement and pondered T1, T2, FLAIR and diffusion sequences is today the technique of choice to visualize the leptomeningeal angioma or to suspect it by indirect signs, even before the development of neurological signs, from the first months of life...
2013: Handbook of Clinical Neurology
Giulia Barcia, Matthew R Fleming, Aline Deligniere, Valeswara-Rao Gazula, Maile R Brown, Maeva Langouet, Haijun Chen, Jack Kronengold, Avinash Abhyankar, Roberta Cilio, Patrick Nitschke, Anna Kaminska, Nathalie Boddaert, Jean-Laurent Casanova, Isabelle Desguerre, Arnold Munnich, Olivier Dulac, Leonard K Kaczmarek, Laurence Colleaux, Rima Nabbout
Malignant migrating partial seizures of infancy (MMPSI) is a rare epileptic encephalopathy of infancy that combines pharmacoresistant seizures with developmental delay. We performed exome sequencing in three probands with MMPSI and identified de novo gain-of-function mutations affecting the C-terminal domain of the KCNT1 potassium channel. We sequenced KCNT1 in 9 additional individuals with MMPSI and identified mutations in 4 of them, in total identifying mutations in 6 out of 12 unrelated affected individuals...
November 2012: Nature Genetics
Michael Steffens, Costin Leu, Ann-Kathrin Ruppert, Federico Zara, Pasquale Striano, Angela Robbiano, Giuseppe Capovilla, Paolo Tinuper, Antonio Gambardella, Amedeo Bianchi, Angela La Neve, Giovanni Crichiutti, Carolien G F de Kovel, Dorothée Kasteleijn-Nolst Trenité, Gerrit-Jan de Haan, Dick Lindhout, Verena Gaus, Bettina Schmitz, Dieter Janz, Yvonne G Weber, Felicitas Becker, Holger Lerche, Bernhard J Steinhoff, Ailing A Kleefuß-Lie, Wolfram S Kunz, Rainer Surges, Christian E Elger, Hiltrud Muhle, Sarah von Spiczak, Philipp Ostertag, Ingo Helbig, Ulrich Stephani, Rikke S Møller, Helle Hjalgrim, Leanne M Dibbens, Susannah Bellows, Karen Oliver, Saul Mullen, Ingrid E Scheffer, Samuel F Berkovic, Kate V Everett, Mark R Gardiner, Carla Marini, Renzo Guerrini, Anna-Elina Lehesjoki, Auli Siren, Michel Guipponi, Alain Malafosse, Pierre Thomas, Rima Nabbout, Stephanie Baulac, Eric Leguern, Rosa Guerrero, Jose M Serratosa, Philipp S Reif, Felix Rosenow, Martina Mörzinger, Martha Feucht, Fritz Zimprich, Claudia Kapser, Christoph J Schankin, Arvid Suls, Katrin Smets, Peter De Jonghe, Albena Jordanova, Hande Caglayan, Zuhal Yapici, Destina A Yalcin, Betul Baykan, Nerses Bebek, Ugur Ozbek, Christian Gieger, Heinz-Erich Wichmann, Tobias Balschun, David Ellinghaus, Andre Franke, Christian Meesters, Tim Becker, Thomas F Wienker, Anne Hempelmann, Herbert Schulz, Franz Rüschendorf, Markus Leber, Steffen M Pauck, Holger Trucks, Mohammad R Toliat, Peter Nürnberg, Giuliano Avanzini, Bobby P C Koeleman, Thomas Sander
Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3% and account for 20-30% of all epilepsies. Despite their high heritability of 80%, the genetic factors predisposing to GGEs remain elusive. To identify susceptibility variants shared across common GGE syndromes, we carried out a two-stage genome-wide association study (GWAS) including 3020 patients with GGEs and 3954 controls of European ancestry. To dissect out syndrome-related variants, we also explored two distinct GGE subgroups comprising 1434 patients with genetic absence epilepsies (GAEs) and 1134 patients with juvenile myoclonic epilepsy (JME)...
December 15, 2012: Human Molecular Genetics
Charlotte Dravet
Four steps, which have been clearly described in the previous texts, can be used to help families of patients with Dravet syndrome. The first is the right diagnosis. The article by I. Scheffer reviewed the clinical presentation of Dravet syndrome. Diagnosis at the onset is sometimes difficult. In doubtful cases, when convulsive seizures are repeated and prolonged, I advocate early treatment under the presumption that it may be Dravet syndrome, so that complications such as status epilepticus or inappropriate use of antiepileptic drugs may be avoided...
September 2012: European Journal of Paediatric Neurology: EJPN
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