Nabbout Rima: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC)

Zöllner, Johann Philipp, Franz, David Neal, Hertzberg, Christoph, Nabbout, Rima, Rosenow, Felix, Sauter, Matthias, Schubert-Bast, Susanne, Wiemer-Kruel, Adelheid, Strzelczyk, Adam

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

Language:

english

File:

PDF, 1.66 MB

english, 2020

2

Behavior and interaction imaging at 9 months of age predict autism/intellectual disability in high-risk infants with West syndrome

Ouss, Lisa, Palestra, Giuseppe, Saint-Georges, Catherine, Leitgel Gille, Marluce, Afshar, Mohamed, Pellerin, Hugues, Bailly, Kevin, Chetouani, Mohamed, Robel, Laurence, Golse, Bernard, Nabbout, Rima,

Journal:

Translational Psychiatry

Year:

2020

Language:

english

File:

PDF, 498 KB

english, 2020

3

Spikes might precede seizures and predict epilepsy in children with Sturge-Weber syndrome: A pilot study

Bar, Claire, Kaminska, Anna, Nabbout, Rima

Journal:

Epilepsy Research

Year:

2018

Language:

english

File:

PDF, 198 KB

english, 2018

4

Off-label use and manipulations of antiepileptic drugs in children: Analysis of the outpatient prescriptions in a tertiary center

Kuchenbuch, Mathieu, Chemaly, Nicole, Henniene, Kassem MB, Kaminska, Anna, Chiron, Catherine, Nabbout, Rima

Journal:

Epilepsy & Behavior

Year:

2018

Language:

english

File:

PDF, 734 KB

english, 2018

5

Challenges in managing epilepsy associated with focal cortical dysplasia in children

Wong-Kisiel, Lily C., Blauwblomme, Thomas, Ho, Mai-Lan, Boddaert, Nathalie, Parisi, Joseph, Wirrell, Elaine, Nabbout, Rima

Journal:

Epilepsy Research

Year:

2018

Language:

english

File:

PDF, 9.17 MB

english, 2018

6

The genetics of Dravet syndrome

Carla Marini, Ingrid E. Scheffer, Rima Nabbout, Arvid Suls, Peter De Jonghe, Federico Zara, Renzo Guerrini

Journal:

Year:

2011

Language:

english

File:

PDF, 75 KB

english, 2011

7

Febrile infection–related epilepsy syndrome (FIRES): Pathogenesis, treatment, and outcome : A multicenter study on 77 children

Uri Kramer, Ching-Shiang Chi, Kuang-Lin Lin, Nicola Specchio, Mustafa Sahin, Heather Olson, Rima Nabbout, Gerhard Kluger, Jainn-Jim Lin, Andreas van Baalen

Journal:

Year:

2011

Language:

english

File:

PDF, 91 KB

english, 2011

8

Acute encephalopathy with inflammation-mediated status epilepticus

Rima Nabbout, Annamaria Vezzani, Olivier Dulac, Catherine Chiron

Journal:

The Lancet Neurology

Year:

2011

Language:

english

File:

PDF, 294 KB

english, 2011

9

Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy

Nabbout, Rima, Chemaly, Nicole, Chipaux, Mathilde, Barcia, Giulia, Bouis, Charles, Dubouch, Celia, Leunen, Dorothee, Jambaqué, Isabelle, Dulac, Olivier, Dellatolas, Georges, Chiron, Catherine

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 305 KB

english, 2013

10

Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness

Perrault, Isabelle, Hamdan, Fadi F., Rio, Marlène, Capo-Chichi, José-Mario, Boddaert, Nathalie, Décarie, Jean-Claude, Maranda, Bruno, Nabbout, Rima, Sylvain, Michel, Lortie, Anne, Roux, Philippe P., R

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.32 MB

english, 2014

11

TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex

Kingswood, John C, Bruzzi, Paolo, Curatolo, Paolo, de Vries, Petrus J, Fladrowski, Carla, Hertzberg, Christoph, Jansen, Anna C, Jozwiak, Sergiusz, Nabbout, Rima, Sauter, Matthias, Touraine, Renaud, O’

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 1.02 MB

english, 2014

12

Autism spectrum disorder phenotype and intellectual disability in females with epilepsy and PCDH-19 mutations

Breuillard, Delphine, Leunen, Dorothée, Chemaly, Nicole, Auclair, Laurent, Pinard, Jean Marc, Kaminska, Anna, Desguerre, Isabelle, Ouss, Lisa, Nabbout, Rima

Journal:

Epilepsy & Behavior

Year:

2016

Language:

english

File:

PDF, 420 KB

english, 2016

13

Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome

Devinsky, Orrin, Cross, J. Helen, Laux, Linda, Marsh, Eric, Miller, Ian, Nabbout, Rima, Scheffer, Ingrid E., Thiele, Elizabeth A., Wright, Stephen

Journal:

New England Journal of Medicine

Year:

2017

Language:

english

File:

PDF, 201 KB

english, 2017

14

Proposed consensus definitions for new-onset refractory status epilepticus (NORSE), febrile infection-related epilepsy syndrome (FIRES), and related conditions

Hirsch, Lawrence J., Gaspard, Nicolas, van Baalen, Andreas, Nabbout, Rima, Demeret, Sophie, Loddenkemper, Tobias, Navarro, Vincent, Specchio, Nicola, Lagae, Lieven, Rossetti, Andrea O., Hocker, Sara,

Journal:

Year:

2018

Language:

english

File:

PDF, 364 KB

english, 2018

15

Pharmacokinetic evaluation of vigabatrin dose for the treatment of refractory focal seizures in children using adult and pediatric data

Rodrigues, Christelle, Chiron, Catherine, Ounissi, Marwa, Dulac, Olivier, Gaillard, Ségolène, Nabbout, Rima, Jullien, Vincent

Journal:

Epilepsy Research

Year:

2019

Language:

english

File:

PDF, 544 KB

english, 2019

16

Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: A new MCA/MR syndrome?

M�garban�, Andr�, Haddad-Zebouni, Soha, Nabbout, Rima, Khoury, Antoine H., Traboulsi, Elias I.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 349 KB

english, 1999

17

Taurine deficiency is a cause of vigabatrin-induced retinal phototoxicity

Firas Jammoul, Qingping Wang, Rima Nabbout, Caroline Coriat, Agnès Duboc, Manuel Simonutti, Elisabeth Dubus, Cheryl M. Craft, Wen Ye, Stephen D. Collins, Olivier Dulac, Catherine Chiron, José A. Sahel

Journal:

Annals of Neurology

Year:

2009

Language:

english

File:

PDF, 1.57 MB

english, 2009

18

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

Christel Depienne, Oriane Trouillard, Delphine Bouteiller, Isabelle Gourfinkel-An, Karine Poirier, François Rivier, Patrick Berquin, Rima Nabbout, Denys Chaigne, Dominique Steschenko, Agnès Gautier, D

Journal:

Year:

2011

File:

PDF, 577 KB

2011

19

Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy

Christel Depienne, Alexis Arzimanoglou, Oriane Trouillard, Estelle Fedirko, Stéphanie Baulac, Cécile Saint-Martin, Merle Ruberg, Charlotte Dravet, Rima Nabbout, Michel Baulac, Isabelle Gourfinkel-An,

Journal:

Year:

2006

Language:

english

File:

PDF, 181 KB

english, 2006

20

An unexpected EEG course in Dravet syndrome

Rima Nabbout, Isabelle Desguerre, Sandra Sabbagh, Christel Depienne, Perrine Plouin, Olivier Dulac, Catherine Chiron

Journal:

Epilepsy Research

Year:

2008

Language:

english

File:

PDF, 495 KB

english, 2008

21

Topiramate pharmacokinetics in infants and young children: Contribution of population analysis

Marion Bouillon-Pichault, Rima Nabbout, Stephanie Chhun, Elisabeth Rey, Catherine Chiron, Olivier Dulac, Gerard Pons, Vincent Jullien

Journal:

Epilepsy Research

Year:

2011

Language:

english

File:

PDF, 289 KB

english, 2011

22

CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy

Rima Nabbout, Christel Depienne, Mathilde Chipaux, Benoit Girard, Isabelle Souville, Oriane Trouillard, Olivier Dulac, Jamel Chelly, Alexandra Afenjar, Delphine Héron, Eric Leguern, Cherif Beldjord, T

Journal:

Epilepsy Research

Year:

2009

Language:

english

File:

PDF, 157 KB

english, 2009

23

Short-term Nonhormonal and Nonsteroid Treatment in West Syndrome

Giuseppe Capovilla, Francesco Beccaria, Allesandra Montagnini, Raffaella Cusmai, Emilio Franzoni, Filomena Moscano, Giangennero Coppola, Marco Carotenuto, Giuseppe Gobbi, Stefano Seri, Rima Nabbout, F

Journal:

Year:

2003

Language:

english

File:

PDF, 57 KB

english, 2003

24

Congenital brain tumor in a neonate conceived by in vitro fertilization

T. Rizk, Rima Nabbout, Salam Koussa, Carlo Akatcherian

Journal:

Child's Nervous System

Year:

2000

Language:

english

File:

PDF, 29 KB

english, 2000

25

Short-term Nonhormonal and Nonsteroid Treatment in West Syndrome

Giuseppe Capovilla, Francesca Beccaria, Alessandra Montagnini, Raffaella Cusmai, Emilio Franzoni, Filomena Moscano, Giangennaro Coppola, Marco Carotenuto, Giuseppe Gobbi, Stefano Seri, Rima Nabbout, F

Journal:

Year:

2004

File:

PDF, 17 KB

2004

26

The ketogenic diet improves recently worsened focal epilepsy

NATHALIE VILLENEUVE, FLORENCE PINTON, NADIA BAHI-BUISSON, OLIVIER DULAC, CATHERINE CHIRON, RIMA NABBOUT

Journal:

Developmental Medicine & Child Neurology

Year:

2009

Language:

english

File:

PDF, 89 KB

english, 2009

27

Epilepsy in Menkes Disease: Analysis of Clinical Stages

Nadia Bahi-Buisson, Anna Kaminska, Rima Nabbout, Christine Barnerias, Isabelle Desguerre, Pascale De Lonlay, Michele Mayer, Perrine Plouin, Olivier Dulac, Catherine Chiron

Journal:

Year:

2006

Language:

english

File:

PDF, 543 KB

english, 2006

28

Exploration of the Genetic Architecture of Idiopathic Generalized Epilepsies

Anne Hempelmann, Kirsten P. Taylor, Armin Heils, Susanne Lorenz, Jean-Francois Prud'Homme, Rima Nabbout, Olivier Dulac, Gabrielle Rudolf, Federico Zara, Amedeo Bianchi, Robert Robinson, R. Mark Gardin

Journal:

Year:

2006

Language:

english

File:

PDF, 325 KB

english, 2006

29

Can SCN1A mutations account for SUDEP?—Commentary on Hindocha et al.

Journal:

Year:

2008

Language:

english

File:

PDF, 400 KB

english, 2008

30

A case report of a family with overlapping features of autosomal dominant febrile seizures and GEFS+

Neeti Hindocha, Rima Nabbout, Frances Elmslie, Andrew Makoff, Ammar Al-Chalabi, Lina Nashef

Journal:

Year:

2009

Language:

english

File:

PDF, 247 KB

english, 2009

31

SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis

Carla Marini, Ingrid E. Scheffer, Rima Nabbout, Davide Mei, Kathy Cox, Leanne M. Dibbens, Jacinta M. McMahon, Xenia Iona, Rochio Sanchez Carpintero, Maurizio Elia, Maria Roberta Cilio, Nicola Specchio

Journal:

Year:

2009

Language:

english

File:

PDF, 178 KB

english, 2009

32

Efficacy of ketogenic diet in severe refractory status epilepticus initiating fever induced refractory epileptic encephalopathy in school age children (FIRES)

Rima Nabbout, Michel Mazzuca, Philippe Hubert, Sylviane Peudennier, Catherine Allaire, Vincent Flurin, Marina Aberastury, Walter Silva, Olivier Dulac

Journal:

Year:

2010

Language:

english

File:

PDF, 69 KB

english, 2010

33

Ketogenic diet also benefits Dravet syndrome patients receiving stiripentol: A prospective pilot study

Rima Nabbout, Cristiana Copioli, Mathilde Chipaux, Nicole Chemaly, Isabelle Desguerre, Olivier Dulac, Catherine Chiron

Journal:

Year:

2011

Language:

english

File:

PDF, 57 KB

english, 2011

34

Parental view of epilepsy in Rett Syndrome

Bahi-Buisson Nadia, Guellec Isabelle, Nabbout Rima, Guet Agnès, Nguyen Gérard, Dulac Olivier, Chiron Catherine

Journal:

Brain and Development

Year:

2008

Language:

english

File:

PDF, 101 KB

english, 2008

35

Erratum to “Parental view of epilepsy in Rett Syndrome” [Brain Dev. 30 (2008) 126–130]

Nadia Bahi-Buisson, Isabelle Guellec, Rima Nabbout, Agnès Guet, Gérard Nguyen, Olivier Dulac, Catherine Chiron

Journal:

Brain and Development

Year:

2009

Language:

english

File:

PDF, 54 KB

english, 2009

36

Monogenic idiopathic epilepsies

Isabelle Gourfinkel-An, Stéphanie Baulac, Rima Nabbout, Merle Ruberg, Michel Baulac, Alexis Brice, Eric LeGuern

Journal:

The Lancet Neurology

Year:

2004

Language:

english

File:

PDF, 304 KB

english, 2004

37

Fever, genes, and epilepsy

Stéphanie Baulac, Isabelle Gourfinkel-An, Rima Nabbout, Gilles Huberfeld, Jose Serratosa, Eric Leguern, Michel Baulac

Journal:

The Lancet Neurology

Year:

2004

Language:

english

File:

PDF, 212 KB

english, 2004

38

Early seizures: causal events or predisposition to adult epilepsy?

Olivier Dulac, Rima Nabbout, Perrine Plouin, Catherine Chiron, Ingrid E Scheffer

Journal:

The Lancet Neurology

Year:

2007

Language:

english

File:

PDF, 387 KB

english, 2007

39

A Gene for Pyridoxine-Dependent Epilepsy Maps to Chromosome 5q31

Valérie Cormier-Daire, Nathalie Dagoneau, Rima Nabbout, Lydie Burglen, Clotilde Penet, Christine Soufflet, Isabelle Desguerre, Arnold Munnich, Olivier Dulac

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 745 KB

english, 2000

40

Autoimmune and inflammatory epilepsies

Journal:

Year:

2012

Language:

english

File:

PDF, 69 KB

english, 2012

41

Epilepsy: MRI follow-up in paediatric convulsive status epilepticus

Nabbout, Rima, Dulac, Olivier

Journal:

Nature Reviews Neurology (formerly Nature Clinical Practice Neurology)

Year:

2012

Language:

english

File:

PDF, 210 KB

english, 2012

42

Epilepsy: Genetics of early-onset epilepsy with encephalopathy

Nabbout, Rima, Dulac, Olivier

Journal:

Nature Reviews Neurology (formerly Nature Clinical Practice Neurology)

Year:

2012

Language:

english

File:

PDF, 160 KB

english, 2012

43

Management of epilepsy associated with tuberous sclerosis complex (TSC): Clinical recommendations

Paolo Curatolo, Sergiusz Jóźwiak, Rima Nabbout

Journal:

European Journal of Paediatric Neurology

Year:

2012

Language:

english

File:

PDF, 140 KB

english, 2012

44

A Risk-Benefit Assessment of Treatments for Infantile Spasms

Dr Rima Nabbout

Journal:

Year:

2001

Language:

english

File:

PDF, 188 KB

english, 2001

45

Epileptic syndromes in infancy and childhood

Nabbout, Rima, Dulac, Olivier

Journal:

Current Opinion in Neurology

Year:

2008

Language:

english

File:

PDF, 1.65 MB

english, 2008

46

[Handbook of Clinical Neurology] Pediatric Neurology Part I Volume 111 || Genetics of idiopathic epilepsies

Year:

2013

Language:

english

File:

PDF, 624 KB

english, 2013

47

Novel Compound Heterozygous Mutations in TBC 1 D 24 Cause Familial Malignant Migrating Partial Seizures of Infancy

Milh, Mathieu, Falace, Antonio, Villeneuve, Nathalie, Vanni, Nicola, Cacciagli, Pierre, Assereto, Stefania, Nabbout, Rima, Benfenati, Fabio, Zara, Federico, Chabrol, Brigitte, Villard, Laurent, Fassio

Journal:

Year:

2013

Language:

english

File:

PDF, 174 KB

english, 2013

48

Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations

Jóźwiak, Sergiusz, Nabbout, Rima, Curatolo, Paolo

Journal:

European Journal of Paediatric Neurology

Year:

2013

Language:

english

File:

PDF, 465 KB

english, 2013

49

Do mutations in SCN1B cause Dravet syndrome?

Kim, Young Ok, Dibbens, Leanne, Marini, Carla, Suls, Arvid, Chemaly, Nicole, Mei, Davide, McMahon, Jacinta M., Iona, Xenia, Berkovic, Samuel F., De Jonghe, Peter, Guerrini, Renzo, Nabbout, Rima, Schef

Journal:

Epilepsy Research

Year:

2013

Language:

english

File:

PDF, 167 KB

english, 2013

50

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Nava, Caroline, Dalle, Carine, Rastetter, Agnès, Striano, Pasquale, de Kovel, Carolien G F, Nabbout, Rima, Cancès, Claude, Ville, Dorothée, Brilstra, Eva H, Gobbi, Giuseppe, Raffo, Emmanuel, Bouteille

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 923 KB

english, 2014