Rima Nabbout

Rima Nabbout

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Rima Nabbout

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Exome sequencing findings in 27 patients with myoclonic-atonic epilepsy: Is there a major genetic factor?

Clin Genet 2019 Sep 6;96(3):254-260. Epub 2019 Jun 6.

Reference Centre for Rare Epilepsies, Pediatric Neurology, Necker Enfants-Malades Hospital, Paris, France.

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http://dx.doi.org/10.1111/cge.13581DOI Listing
September 2019

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

Gene mutations in paediatric epilepsies cause NMDA-pathy, and phasic and tonic GABA-pathy.

Dev Med Child Neurol 2019 Aug 25;61(8):891-898. Epub 2019 Jan 25.

Inserm U1129, Infantile Epilepsies and Brain Plasticity, CEA Gif/Yvette, Pôle de Recherche et d'Enseignement Supérieur Sorbonne Paris Cité, Paris Descartes University, Paris, France.

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http://doi.wiley.com/10.1111/dmcn.14152
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http://dx.doi.org/10.1111/dmcn.14152DOI Listing
August 2019

Experience of follow-up, quality of life, and transition from pediatric to adult healthcare of patients with tuberous sclerosis complex.

Epilepsy Behav 2019 Jul 9;96:23-27. Epub 2019 May 9.

Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Necker-Enfants Malades, AP-HP, Paris, France; Laboratory of Translational Research for Neurological Disorders, INSERM UMR 1163, Imagine Institute, Paris, France; Université Paris Descartes -Sorbonne Paris Cité, Imagine Institute, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15255050183082
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http://dx.doi.org/10.1016/j.yebeh.2019.04.027DOI Listing
July 2019

Early magnetic resonance imaging to detect presymptomatic leptomeningeal angioma in children with suspected Sturge-Weber syndrome.

Dev Med Child Neurol 2019 May 3. Epub 2019 May 3.

Department of Paediatric Neurology, Hôpital Necker-Enfants Malades, Reference Centre for Rare Epilepsies, APHP, Bordeaux, France.

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http://dx.doi.org/10.1111/dmcn.14253DOI Listing
May 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
April 2019

The evaluation and costs of transition programs for youth with epilepsy.

Epilepsy Behav 2019 Apr 6;93:133-137. Epub 2019 Jan 6.

Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.

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https://linkinghub.elsevier.com/retrieve/pii/S15255050183102
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http://dx.doi.org/10.1016/j.yebeh.2018.12.014DOI Listing
April 2019

Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype.

Epilepsia Open 2019 Mar 20;4(1):40-53. Epub 2018 Dec 20.

Reference Centre for Rare Epilepsies Department of Pediatric Neurology Necker Enfants Malades Hospital APHP Paris Descartes University Imagine Institute Paris France.

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http://doi.wiley.com/10.1002/epi4.12281
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http://dx.doi.org/10.1002/epi4.12281DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6398110PMC
March 2019

Proposition of a Minimal Effective Dose of Vigabatrin for the Treatment of Infantile Spasms Using Pediatric and Adult Pharmacokinetic Data.

J Clin Pharmacol 2019 Feb 7;59(2):177-188. Epub 2018 Sep 7.

INSERM U1129, Paris, France, Paris Descartes University, CEA, Gif-sur-Yvette, France.

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http://dx.doi.org/10.1002/jcph.1309DOI Listing
February 2019

Long-term cannabidiol treatment in patients with Dravet syndrome: An open-label extension trial.

Epilepsia 2019 Feb 23;60(2):294-302. Epub 2018 Dec 23.

GW Research Ltd, Cambridge, UK.

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http://dx.doi.org/10.1111/epi.14628DOI Listing
February 2019

Gamma-aminobutyric acidergic transmission underlies interictal epileptogenicity in pediatric focal cortical dysplasia.

Ann Neurol 2019 Feb 17;85(2):204-217. Epub 2019 Jan 17.

INSERM U1129, Infantile Epilepsies and Brain Plasticity, Paris Descartes University, PRES Sorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.1002/ana.25403DOI Listing
February 2019

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

Epilepsy Res 2019 02 7;150:38-45. Epub 2019 Jan 7.

INSERM U1129, Paris, France; Paris Descartes University, CEA, Gif-sur-Yvette, France; Service de Pharmacologie, Hôpital Européen Georges Pompidou, 20 rue Leblanc, 75015 Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09201211183031
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http://dx.doi.org/10.1016/j.eplepsyres.2019.01.002DOI Listing
February 2019

Early and long-term electroclinical features of patients with epilepsy and PCDH19 mutation.

Epileptic Disord 2018 Dec;20(6):457-467

Pediatric Neurology Department, Centre de Référence des Épilepsies Rares, Necker Enfants Malades Hospital, Paris, Inserm U1129, Paris; University Paris Descartes; CEA, Gif sur Yvette.

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http://dx.doi.org/10.1684/epd.2018.1009DOI Listing
December 2018

Everolimus for treatment-refractory seizures in TSC: Extension of a randomized controlled trial.

Neurol Clin Pract 2018 Oct;8(5):412-420

Department of Neurology (DNF), Cincinnati Children's Hospital Medical Center, OH; Tuberous Sclerosis Multidisciplinary Management Clinic (JAL), Sydney Children's Hospital, Randwick, New South Wales, Australia; Division of Child Neurology (ZY), Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Turkey; NHO Epilepsy Center (HI), Shizuoka Institute of Epilepsy and Neurological Disorders, Japan; Paediatric Epileptology (TP), Mara Hospital, Bethel Epilepsy Center, Germany; Reference Centre for Rare Epilepsies (RN), Hospital Necker-Enfants Malades, Paris Descartes University, France; Tor Vergata University Hospital (PC), Rome, Italy; Division of Child and Adolescent Psychiatry (PJdV), University of Cape Town, South Africa; Departments of Neurology and Pediatrics (DJD), The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania; Novartis Pharmaceuticals Corporation (MV, JF, DP), East Hanover, NJ; Novartis Pharmaceuticals SAS (AV), Rueil-Malmaison, France; and NYU Comprehensive Epilepsy Center (JAF), New York.

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http://dx.doi.org/10.1212/CPJ.0000000000000514DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276348PMC
October 2018

Challenges in managing epilepsy associated with focal cortical dysplasia in children.

Epilepsy Res 2018 09 14;145:1-17. Epub 2018 May 14.

Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Hospital, Assistance Publique - Hôpitaux de Paris, Université Paris Descartes, Sorbonne Paris Cité, 149 rue de Sevres, 75015, Paris, France; INSERM U1129, Paris Descartes University, CEA, Gif sur Yvette, France. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2018.05.006DOI Listing
September 2018

Do children with Dravet syndrome continue to benefit from stiripentol for long through adulthood?

Epilepsia 2018 09 22;59(9):1705-1717. Epub 2018 Aug 22.

Reference Center for Rare Epilepsies, APHP, Necker-Enfants Malades Hospital, Paris, France.

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http://dx.doi.org/10.1111/epi.14536DOI Listing
September 2018

Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study.

Authors:
Patrick May Simon Girard Merle Harrer Dheeraj R Bobbili Julian Schubert Stefan Wolking Felicitas Becker Pamela Lachance-Touchette Caroline Meloche Micheline Gravel Cristina E Niturad Julia Knaus Carolien De Kovel Mohamad Toliat Anne Polvi Michele Iacomino Rosa Guerrero-López Stéphanie Baulac Carla Marini Holger Thiele Janine Altmüller Kamel Jabbari Ann-Kathrin Ruppert Wiktor Jurkowski Dennis Lal Raffaella Rusconi Sandrine Cestèle Benedetta Terragni Ian D Coombs Christopher A Reid Pasquale Striano Hande Caglayan Auli Siren Kate Everett Rikke S Møller Helle Hjalgrim Hiltrud Muhle Ingo Helbig Wolfram S Kunz Yvonne G Weber Sarah Weckhuysen Peter De Jonghe Sanjay M Sisodiya Rima Nabbout Silvana Franceschetti Antonietta Coppola Maria S Vari Dorothée Kasteleijn-Nolst Trenité Betul Baykan Ugur Ozbek Nerses Bebek Karl M Klein Felix Rosenow Dang K Nguyen François Dubeau Lionel Carmant Anne Lortie Richard Desbiens Jean-François Clément Cécile Cieuta-Walti Graeme J Sills Pauls Auce Ben Francis Michael R Johnson Anthony G Marson Bianca Berghuis Josemir W Sander Andreja Avbersek Mark McCormack Gianpiero L Cavalleri Norman Delanty Chantal Depondt Martin Krenn Fritz Zimprich Sarah Peter Marina Nikanorova Robert Kraaij Jeroen van Rooij Rudi Balling M Arfan Ikram André G Uitterlinden Giuliano Avanzini Stephanie Schorge Steven Petrou Massimo Mantegazza Thomas Sander Eric LeGuern Jose M Serratosa Bobby P C Koeleman Aarno Palotie Anna-Elina Lehesjoki Michael Nothnagel Peter Nürnberg Snezana Maljevic Federico Zara Patrick Cossette Roland Krause Holger Lerche

Lancet Neurol 2018 08 17;17(8):699-708. Epub 2018 Jul 17.

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http://dx.doi.org/10.1016/S1474-4422(18)30215-1DOI Listing
August 2018

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

Epilepsy Res 2018 07 28;143:75-78. Epub 2018 Mar 28.

Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Hôpital Necker-Enfants Malades, APHP, Paris, France; INSERM U1129, Paris, France; Paris Descartes University, Sorbonne Paris Cité, CEA, Gif sur Yvette, France. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2018.03.020DOI Listing
July 2018

Electrocorticographic telemetric recording in unrestrained mouse pups.

J Neurosci Methods 2018 07 1;305:17-27. Epub 2018 May 1.

INSERM U1129 "Infantile Epilepsies and Brain Plasticity", Paris, France; Paris Descartes University, France; CEA, Gif sur Yvette, France. Electronic address:

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http://dx.doi.org/10.1016/j.jneumeth.2018.04.020DOI Listing
July 2018

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

Epilepsy Behav 2018 05 3;82:133-139. Epub 2018 Apr 3.

Reference Centre for Rare Epilepsies, APHP, Necker-Enfants Malades Hospital, Imagine institute, Paris, France; INSERM U1129, Paris Descartes University, CEA, Gif sur Yvette, France. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2018.03.013DOI Listing
May 2018

New-onset refractory status epilepticus (NORSE) and febrile infection-related epilepsy syndrome (FIRES): State of the art and perspectives.

Epilepsia 2018 04 24;59(4):745-752. Epub 2018 Feb 24.

Department of Pediatric Neurology, Centre de Reference Epilepsies Rares, Necker-Enfants Malades Hospital, Inserm U1129, Imagine Institute, Paris Descartes University, Paris, France.

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http://dx.doi.org/10.1111/epi.14022DOI Listing
April 2018

Age-related "Sleep/nocturnal" tonic and tonic clonic seizure clusters are underdiagnosed in patients with Dravet Syndrome.

Epilepsy Behav 2017 09 3;74:33-40. Epub 2017 Jul 3.

Reference Centre for Rare Epilepsies, APHP, Necker-Enfants Malades Hospital, Imagine institute, Paris, France; INSERM U1129, Paris, France; Paris Descartes University, CEA, Gif sur Yvette, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15255050173032
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http://dx.doi.org/10.1016/j.yebeh.2017.05.037DOI Listing
September 2017

Urgent need to implement transition programs.

Authors:
Rima Nabbout

Epilepsy Behav 2017 08 11;73:285. Epub 2017 Jul 11.

Reference Centre for Rare Epilepsies, APHP, Necker-Enfants Malades Hospital, Imagine Institute, Paris Descartes University, Paris, France; INSERM U1129, Paris, France; Paris Descartes University, CEA, Gif sur Yvette, France. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2017.04.013DOI Listing
August 2017

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

N Engl J Med 2017 05;376(21):2011-2020

From the New York University Langone Comprehensive Epilepsy Center, New York (O.D.); the University College London Great Ormond Street Institute of Child Health (J.H.C.) and GW Pharmaceuticals (S.W.) - both in London; Lurie Children's Epilepsy Center, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago (L.L.); the Children's Hospital of Philadelphia, Philadelphia (E.M.); Miami Children's Hospital, Miami (I.M.); Hôpital Necker-Enfants Malades, Paris (R.N.); Florey Institute, Austin Health and Royal Children's Hospital, University of Melbourne, Melbourne, VIC, Australia (I.E.S.); and Massachusetts General Hospital, Boston (E.A.T.).

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http://dx.doi.org/10.1056/NEJMoa1611618DOI Listing
May 2017

The transition from pediatric to adult care for youth with epilepsy: Basic biological, sociological, and psychological issues.

Epilepsy Behav 2017 04 13;69:170-176. Epub 2017 Jan 13.

Reference centre for rare epilepsies, Pediatric Neurology, Necker-Enfants Malades University Hospital, APHP, University of Paris Descartes, Inserm U1129, Paris, France.

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http://dx.doi.org/10.1016/j.yebeh.2016.11.009DOI Listing
April 2017

Treatment issues for children with epilepsy transitioning to adult care.

Epilepsy Behav 2017 04 8;69:153-160. Epub 2017 Feb 8.

Dalhousie University & IWK Health Center, Dalhousie University, Halifax, NS, Canada.

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http://dx.doi.org/10.1016/j.yebeh.2016.11.008DOI Listing
April 2017

Efficacy of a ketogenic diet in resistant myoclono-astatic epilepsy: A French multicenter retrospective study.

Epilepsy Res 2017 03 20;131:64-69. Epub 2017 Feb 20.

Hôpital Universitaire de Strasbourg, Centre de Référence des Epilepsies Rares, France. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2017.02.005DOI Listing
March 2017

Epileptic spasms in congenital disorders of glycosylation.

Epileptic Disord 2017 Mar;19(1):15-23

Department of Clinical Neurophysiology, Necker Enfants Malades Hospital, Paris, INSERM U1129, Paris, France; Paris Descartes University, CEA, Gif sur Yvette, Paris, France.

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http://dx.doi.org/10.1684/epd.2017.0901DOI Listing
March 2017

Unilateral predominance of abnormal movements: A characteristic feature of the pediatric anti-NMDA receptor encephalitis?

Epilepsy Behav Case Rep 2017 18;7:42-44. Epub 2017 Jan 18.

Department of Clinical Neurophysiology, Necker-Enfants Malades Hospital, APHP, Paris, France; INSERM U1129, Paris, France; Paris Descartes University, Sorbonne Paris Cité; CEA, Gif sur Yvette, France.

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http://dx.doi.org/10.1016/j.ebcr.2016.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5357742PMC
January 2017

Patients with dravet syndrome in the era of stiripentol: A French cohort cross-sectional study.

Epilepsy Res 2016 09 28;125:42-6. Epub 2016 May 28.

Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, Imagine Institute, 149 Rue de Sevres, 75015 Paris, France; Inserm U1129, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France; CEA, Gif Sur Yvette, France; Paris Descartes University, Department of Pediatrics, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2016.05.012DOI Listing
September 2016

Stimulation of Slack K(+) Channels Alters Mass at the Plasma Membrane by Triggering Dissociation of a Phosphatase-Regulatory Complex.

Cell Rep 2016 08 18;16(9):2281-8. Epub 2016 Aug 18.

Department of Pharmacology, Yale School of Medicine, New Haven, CT 06520, USA; Department of Cellular and Molecular Physiology, Yale School of Medicine, New Haven, CT 06520, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2016.07.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5123741PMC
August 2016

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

Epilepsy Behav 2016 07 12;60:75-80. Epub 2016 May 12.

Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Paris Descartes University, Necker Enfants Malades Hospital, Paris, France; INSERM U1129, Paris, France; Paris Descartes University, France. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2016.04.009DOI Listing
July 2016

Motor neuropathy contributes to crouching in patients with Dravet syndrome.

Neurology 2016 07 17;87(3):277-81. Epub 2016 Jun 17.

From the Departments of Pediatric Neurology (C.G., N.C., C.B., I.D., M.H., C.C., R.N.) and Pediatric Neurophysiology (C.G., N.C., S.Q.-R.), and Reference Center for Rare Epilepsies (N.C., C.C., O.D., R.N.), Necker Enfants Malades Hospital, APHP, Paris; INSERM U1129-Infantile Epilepsies and Brain Plasticity (N.C., C.C., O.D., R.N.), Paris; Paris Descartes (N.C., C.C., O.D., R.N.), Sorbonne Paris Cité University; CEA (N.C., C.C., O.D., R.N.), Gif sur Yvette; Department of Pediatric Neurology (S.Q.-R.), Raymond Poincaré Hospital, APHP, Garches; and Paris Descartes University (C.G., I.D., R.N.), France.

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http://dx.doi.org/10.1212/WNL.0000000000002859DOI Listing
July 2016

Arterial spin labeling shows pre-epileptic tuber hyperperfusion in tuberous sclerosis complex.

Neurology 2016 05;86(18):1744-5

From the Departments of Pediatric Neurology (M.H., D.B., N.C., R.N.) and Pediatric Radiology (D.G., F.B., R.C., N.B.), Necker Enfants Malades Hospital, APHP, Paris; Centre National de Référence des Epilepsies Rares de l'Enfant (M.H., D.B., N.C., R.N.); INSERM U1129 (M.H., D.B., N.C., R.N.), Paris; University René Descartes (D.G., F.B., R.C., N.B., R.N.), PRES Sorbonne Paris Cité, Paris; INSERM U1000 (D.G., F.B., R.C., N.B.), Paris; and MR 1163 (D.G., F.B., R.C., N.B., R.N.), Institut Imagine, Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000002636DOI Listing
May 2016

Novel GABRG2 mutations cause familial febrile seizures.

Neurol Genet 2015 Dec 4;1(4):e35. Epub 2015 Nov 4.

Sorbonne Universités (M.B., S.I., M.D., S.B., M.M.-B., E.L., S.W., M.B., V.L., I.A.-G.), UPMC Univ Paris 06, UM 75, ICM; INSERM, U1127 (M.B., S.I., M.D., S.B., M.M.-B., E.L., S.W., M.B., V.L., I.A.-G.), ICM; CNRS (M.B., S.I., M.D., S.B., M.M.-B., E.L., S.W., M.B., V.L., I.A.-G.), UMR 7225, ICM; ICM (M.B., S.I., M.D., S.B., M.M.-B., E.L., S.W., M.B., V.L., I.A.-G.), Paris, France; Department of Neurology (F.P.), University Hospitals of Geneva (HUG), Switzerland; Centre de Reference Épilepsies Rares, Epilepsy Unit (S.W., M.B., V.L., I.A.-G.), and Département de Génétique et de Cytogénétique (E.L.), AP-HP Groupe Hospitalier Pitié-Salpêtrière, Paris, France; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova (C.M., P.S.), and Laboratory of Neurogenetics, Department of Neurosciences (F.Z., M.I.), "G. Gaslini" Institute, Genova, Italy; Neurogenetics Group, VIB-Department of Molecular Genetics (K.H.), and Laboratory of Neurogenetics, Institute Born-Bunge (K.H.), University of Antwerp, Belgium; Centre de Reference Épilepsies Rares (O.D., R.N.), Department of Pediatric Neurology, Necker Enfants Malades Hospital, AP-HP, Paris; INSERM (O.D., R.N.), U1129, Necker, Paris, France; and University Paris Descartes (O.D., R.N.), Paris, France.

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http://dx.doi.org/10.1212/NXG.0000000000000035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811385PMC
December 2015

Seizures and epilepsy in hypoglycaemia caused by inborn errors of metabolism.

Dev Med Child Neurol 2015 Feb 22;57(2):194-9. Epub 2014 Aug 22.

Inserm U1129, Paris, France; CEA, Gif-sur-Yvette, France; Paris Descartes University, Paris, France.

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http://dx.doi.org/10.1111/dmcn.12574DOI Listing
February 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
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

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Arterial Spin Labeling MRI: a step forward in non-invasive delineation of focal cortical dysplasia in children.

Epilepsy Res 2014 Dec 13;108(10):1932-9. Epub 2014 Oct 13.

Université Paris Descartes, Sorbonne Paris Cité, Paris, France; INSERM U1129, Pediatric Epilepsies and Brain Plasticity, Paris, France; APHP, Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Hospital Necker, Paris, France.

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http://dx.doi.org/10.1016/j.eplepsyres.2014.09.029DOI Listing
December 2014

Human slack potassium channel mutations increase positive cooperativity between individual channels.

Cell Rep 2014 Dec 4;9(5):1661-1672. Epub 2014 Dec 4.

Department of Pharmacology, Yale University, New Haven, CT 06520, USA; Department of Cellular and Molecular Physiology, Yale University, New Haven, CT 06520, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2014.11.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4294418PMC
December 2014

Current role of rufinamide in the treatment of childhood epilepsy: literature review and treatment guidelines.

Eur J Paediatr Neurol 2014 Nov 28;18(6):685-90. Epub 2014 May 28.

Department of Systems Medicine, Child Neurology and Psychiatry Unit, Tor Vergata University Hospital of Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2014.05.008DOI Listing
November 2014

Multi-electrode array recordings of human epileptic postoperative cortical tissue.

J Vis Exp 2014 Oct 26(92):e51870. Epub 2014 Oct 26.

Neuroglial Interactions in Cerebral Physiopathology, Center for Interdisciplinary Research in Biology, CNRS UMR 7241, INSERM U1050, Collège de France;

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http://dx.doi.org/10.3791/51870DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4353385PMC
October 2014

Transition in adulthood: the challenge of epilepsies.

Epilepsia 2014 Aug;55 Suppl 3:1-2

Department of Pediatric Neurology, Reference Center for Rare Epilepsies, Hospital Necker - Enfants Malades, Paris, France.

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http://dx.doi.org/10.1111/epi.12718DOI Listing
August 2014

Transition: driving and exercise.

Epilepsia 2014 Aug;55 Suppl 3:41-5

Department of Neuroscience, King's College Hospital, London, United Kingdom.

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http://dx.doi.org/10.1111/epi.12717DOI Listing
August 2014

Bringing the transition of epilepsy care from children to adults out of the shadows.

Epilepsia 2014 Aug;55 Suppl 3:52-3

Pediatric Neurology Department, Reference Center for Rare Epilepsies, Hospital Necker - Enfants Malades, Paris, France.

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http://dx.doi.org/10.1111/epi.12598DOI Listing
August 2014

Genetics of idiopathic epilepsies.

Handb Clin Neurol 2013 ;111:567-78

Department of Pediatric Neurology, Hôpital Necker-Enfants Malades; Centre de référence épilepsies rares; INSERM U663, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-52891-9.00059-2DOI Listing
April 2014

Mechanisms of epileptogenesis in pediatric epileptic syndromes: Rasmussen encephalitis, infantile spasms, and febrile infection-related epilepsy syndrome (FIRES).

Neurotherapeutics 2014 Apr;11(2):297-310

Department of Neurology, Division of Neuroimmunology and Neuroinfectious Disorders, Center for Pediatric Rasmussen Syndrome, Johns Hopkins University School of Medicine, Baltimore, MD, USA,

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http://dx.doi.org/10.1007/s13311-014-0265-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3996116PMC
April 2014

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.

Am J Hum Genet 2014 Apr 20;94(4):547-58. Epub 2014 Mar 20.

Department of Pediatric Neurology, Centre de Reference Epilepsies Rares, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France; Institut National de la Santé et de la Recherche Médicale U1129, Université Paris Descartes, 75006 Paris, France; Institut National de la Santé et de la Recherche Médicale U1129, NeuroSpin, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, 91191 Gif-sur-Yvette, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297140010
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http://dx.doi.org/10.1016/j.ajhg.2014.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3980424PMC
April 2014

Infant's engagement and emotion as predictors of autism or intellectual disability in West syndrome.

Eur Child Adolesc Psychiatry 2014 Mar 1;23(3):143-9. Epub 2013 Jun 1.

Service de Psychiatrie de l'Enfant, AP-HP, Hôpital Necker, 149 rue de Sèvres, 75015, Paris, France,

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http://dx.doi.org/10.1007/s00787-013-0430-xDOI Listing
March 2014

Genetic heterogeneity in malignant migrating partial seizures of infancy.

Ann Neurol 2014 Feb 2;75(2):324-6. Epub 2014 Jan 2.

Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal, and Child Health, G. Gaslini Institute, University of Genoa, Genoa, Italy; Laboratory of Neurogenetics, Department of Neurosciences and Rehabilitation, G. Gaslini Institute, Genoa, Italy.

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http://dx.doi.org/10.1002/ana.24061DOI Listing
February 2014

Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?

Eur J Med Genet 2014 Jan 1;57(1):15-20. Epub 2013 Nov 1.

Department of Neuropediatrics, Centre de Reference des Epilepsies Rares, Hopital Necker Enfants Malades, Paris Descartes University, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.10.006DOI Listing
January 2014

KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response.

Neurology 2014 Jan 26;82(4):368-70. Epub 2013 Dec 26.

From the University of California (A.L.N., J.E.S., M.R.C.), San Francisco; Central Hospital of Bolzano (M.A.), Italy; Kaiser Permanente of Northern California (A.J.L.); University of Genoa (P.S.), "G. Gaslini" Institute, Italy; and Paris-Descartes University, Hôpital Necker-Enfants Malades (R.N.), Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000000060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3929196PMC
January 2014

Early electro-clinical features may contribute to diagnosis of the anti-NMDA receptor encephalitis in children.

Clin Neurophysiol 2013 Dec 2;124(12):2354-61. Epub 2013 Jul 2.

Service de neurologie pédiatrique et maladies métaboliques, hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Service d'explorations fonctionnelles, laboratoire de neurophysiologie clinique, hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; INSERM U1016-CNRS8104-Université Paris-Descartes, Faculté de Médecine, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.clinph.2013.05.023DOI Listing
December 2013

Hemiconvulsion-hemiplegia syndrome revisited: longitudinal MRI findings in 10 children.

Dev Med Child Neurol 2013 Dec 8;55(12):1150-8. Epub 2013 Aug 8.

Reference Centre for Rare Epilepsies, Department of Paediatric Neurology, Hôpital Necker-Enfants malades, APHP, Paris, France; Inserm, U663, Paris, France; University Paris Descartes, CEA, Gif sur Yvette, France.

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http://dx.doi.org/10.1111/dmcn.12233DOI Listing
December 2013

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

Orphanet J Rare Dis 2013 Nov 13;8:176. Epub 2013 Nov 13.

Department of Pediatric Neurology, Centre de Reference Epilepsies Rares, Hôpital Necker Enfants Malades APHP, Paris, France.

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http://dx.doi.org/10.1186/1750-1172-8-176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225757PMC
November 2013

Regulation of ClC-2 gating by intracellular ATP.

Pflugers Arch 2013 Oct 1;465(10):1423-37. Epub 2013 May 1.

Institute of Complex Systems-Zelluläre Biophysik (ICS-4), Forschungszentrum Jülich, 52425, Jülich, Germany,

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http://dx.doi.org/10.1007/s00424-013-1286-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778897PMC
October 2013

Transition and transfer from pediatric to adult health care in epilepsy: a families' survey on Dravet syndrome.

Epilepsy Behav 2013 Oct 22;29(1):161-5. Epub 2013 Aug 22.

Department of Pediatrics, University Hospital of Rennes, 35000 Rennes, France; Department of Neurophysiology, University Hospital of Rennes, 35000 Rennes, France; Centre de référence Epilepsies rares, APHP, Department of Pediatric Neurology, Necker Hospital, 75015 Paris, France.

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http://dx.doi.org/10.1016/j.yebeh.2013.07.015DOI Listing
October 2013

FIRES and IHHE: Delineation of the syndromes.

Authors:
Rima Nabbout

Epilepsia 2013 Sep;54 Suppl 6:54-6

Department of Pediatric Neurology, Referral Center for Rare Epilepsies, Necker Infants Maladies Hospital, APHP, 149 rue de Sévres, Paris, France.

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http://dx.doi.org/10.1111/epi.12278DOI Listing
September 2013

Use of dietary therapy for status epilepticus.

J Child Neurol 2013 Aug 1;28(8):1049-51. Epub 2013 May 1.

John M. Freeman Pediatric Epilepsy Center, Department of Neurology, Johns Hopkins Medical Institutions, Baltimore, MD 21287, USA.

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http://dx.doi.org/10.1177/0883073813487601DOI Listing
August 2013

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

Eur J Paediatr Neurol 2013 Jul 5;17(4):348-52. Epub 2013 Feb 5.

Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.1016/j.ejpn.2012.12.008DOI Listing
July 2013

A revisited strategy for antiepileptic drug development in children: designing an initial exploratory step.

CNS Drugs 2013 Mar;27(3):185-95

Inserm, U663, Service de Neurologie et Metabolisme, Hopital Necker, 149 rue de Sevres, 75015, Paris, France.

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http://dx.doi.org/10.1007/s40263-012-0035-9DOI Listing
March 2013

Do mutations in SCN1B cause Dravet syndrome?

Epilepsy Res 2013 Jan 20;103(1):97-100. Epub 2012 Nov 20.

Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.eplepsyres.2012.10.009DOI Listing
January 2013

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

Hum Mol Genet 2012 Dec 4;21(24):5359-72. Epub 2012 Sep 4.

Institute for Medical Biometry, Informatic and Epidemiology, University of Bonn, Bonn, Germany.

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http://hmg.oxfordjournals.org/content/21/24/5359.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/dds373
Publisher Site
http://dx.doi.org/10.1093/hmg/dds373DOI Listing
December 2012

[Epidemicology des epilepsies].

Rev Prat 2012 Dec;62(10):1388-9

Centre de référence des épilepsies rares, unité Inserm U663, service de neuropédiatrie, hôpital Necker-Enfants malades, AP-HP, 75015 Paris, France.

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December 2012

Autoimmune and inflammatory epilepsies.

Authors:
Rima Nabbout

Epilepsia 2012 Sep;53 Suppl 4:58-62

Department of Pediatric Neurology, Reference Center for Rare Epilepsies, Inserm U663, Necker Enfants Malades Hospital, Paris, France.

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http://dx.doi.org/10.1111/j.1528-1167.2012.03614.xDOI Listing
September 2012