Publications by authors named "Jean Michel Pedespan"

41Publications

A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.

Eur J Med Genet 2020 Sep 16;63(12):104063. Epub 2020 Sep 16.

ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories and Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA; Clinical Genomics Program, GeneDx, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.104063DOI Listing
September 2020

Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases.

Eur J Paediatr Neurol 2020 Sep 28;28:214-220. Epub 2020 Jun 28.

Unité de neurologie de l'enfant et de l'adolescent. Centre Hospitalo-Universitaire de Bordeaux, Hôpital Pellegrin Enfants, Place Amélie-Raba-Léon, 33 076, Bordeaux cedex, France.

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http://dx.doi.org/10.1016/j.ejpn.2020.06.002DOI Listing
September 2020

Confirmation of Atypical Presentation With Nonprogressive Leukodystrophy in eIF2B-Related Disorders.

Pediatr Neurol 2019 11 1;100:97-99. Epub 2019 Mar 1.

CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France; Laboratoire MRGM, INSERM U1211, Univ. Bordeaux, Bordeaux, France; Centre de référence Neurogénétique, Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.02.005DOI Listing
November 2019

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

Dev Med Child Neurol 2020 02 3;62(2):227-233. 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
February 2020

Further delineation of the duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Authors:
Marguerite Miguet Laurence Faivre Jeanne Amiel Mathilde Nizon Renaud Touraine Fabienne Prieur Laurent Pasquier Mathilde Lefebvre Julien Thevenon Christèle Dubourg Sophie Julia Catherine Sarret Ganaëlle Remerand Christine Francannet Fanny Laffargue Odile Boespflug-Tanguy Albert David Bertrand Isidor Jacqueline Vigneron Bruno Leheup Laetitia Lambert Christophe Philippe Mylène Béri-Dexheimer Jean-Marie Cuisset Joris Andrieux Ghislaine Plessis Annick Toutain Laurent Guibaud Valérie Cormier-Daire Marlene Rio Jean-Paul Bonnefont Bernard Echenne Hubert Journel Lydie Burglen Sandrine Chantot-Bastaraud Thierry Bienvenu Clarisse Baumann Laurence Perrin Séverine Drunat Pierre-Simon Jouk Klaus Dieterich Françoise Devillard Didier Lacombe Nicole Philip Sabine Sigaudy Anne Moncla Chantal Missirian Catherine Badens Nathalie Perreton Christel Thauvin-Robinet Réseau AChro-Puce Jean-Michel Pedespan Caroline Rooryck Cyril Goizet Catherine Vincent-Delorme Bénédicte Duban-Bedu Nadia Bahi-Buisson Alexandra Afenjar Kim Maincent Delphine Héron Jean-Luc Alessandri Dominique Martin-Coignard Gaëtan Lesca Massimiliano Rossi Martine Raynaud Patrick Callier Anne-Laure Mosca-Boidron Nathalie Marle Charles Coutton Véronique Satre Cédric Le Caignec Valérie Malan Serge Romana Boris Keren Anne-Claude Tabet Valérie Kremer Sophie Scheidecker Adeline Vigouroux Marilyn Lackmy-Port-Lis Damien Sanlaville Marianne Till Maryline Carneiro Brigitte Gilbert-Dussardier Marjolaine Willems Hilde Van Esch Vincent Des Portes Salima El Chehadeh

J Med Genet 2018 Jun 4;55(6):359-371. Epub 2018 Apr 4.

Service de génétique médicale, Institut de Génétique Médicale d'Alsace (IGMA), Centre de Référence Maladies Rares "Anomalies du développement et syndromes malformatifs", Centre de Référence Maladies Rares "Des déficiences intellectuelles de causes rares", Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.

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http://dx.doi.org/10.1136/jmedgenet-2017-104956DOI Listing
June 2018

Report of two cases of tocilizumab induced recurrent meningitis or meningoencephalitis.

Joint Bone Spine 2018 10 31;85(5):643-644. Epub 2018 Jan 31.

Rheumatology department, Pitié Salpêtrière Hospital, AP-HP, 75013 Paris, France; UPMC Univ Paris 06, Institut Pierre-Louis d'épidémiologie et de santé publique, Sorbonne Université, 75013 Paris, France.

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http://dx.doi.org/10.1016/j.jbspin.2018.01.002DOI Listing
October 2018

Initial clinical presentation of young children with N-methyl-d-aspartate receptor encephalitis.

Eur J Paediatr Neurol 2018 May 28;22(3):404-411. Epub 2017 Dec 28.

Centre Français de Référence des Syndromes Neurologiques Paranéoplasiques, Hospices Civils de Lyon, Hôpital Neurologique, F-69677 Bron, France; Université Claude Bernard Lyon 1, CNRS UMR-5310, INSERM U-1217, Institut NeuroMyoGène, F-69003 Lyon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.12.014DOI Listing
May 2018

Childhood idiopathic spinal cord infarction: Description of 7 cases and review of the literature.

Brain Dev 2017 Nov 31;39(10):818-827. Epub 2017 May 31.

Service de Neurologie Pédiatrique, Hôpital Pellegrin-Enfants, CHU de Bordeaux, France.

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http://dx.doi.org/10.1016/j.braindev.2017.05.009DOI Listing
November 2017

Catathrenia in a four-year-old boy: a first case report.

Sleep Med 2016 04 13;20:131-3. Epub 2016 Jan 13.

Department of Clinical Neurophysiology, Hôpital Pellegrin, Bordeaux, France. Electronic address:

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http://dx.doi.org/10.1016/j.sleep.2015.12.014DOI Listing
April 2016

Childhood CIDP: Study of 31 patients and comparison between slow and rapid-onset groups.

Brain Dev 2015 Nov 25;37(10):943-51. Epub 2015 Apr 25.

Unité de neurologie de l'enfant et de l'adolescent, Hôpital Pellegrin-Enfants, CHU de Bordeaux, Place Amélie Raba-Léon, 33076 Bordeaux cedex, France. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2015.04.001DOI Listing
November 2015

Continuation rates of levetiracetam in children from the EULEVp cohort study.

Eur J Paediatr Neurol 2014 Jan 10;18(1):19-24. Epub 2013 Sep 10.

Univ. Bordeaux, Bordeaux F-33076, France; INSERM CIC-P 0005, Bordeaux F-33076, France; CHU de Bordeaux, Bordeaux F-33076, France; INSERM U657, Bordeaux F-33076, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2013.07.003DOI Listing
January 2014

Benign nocturnal alternating hemiplegia of childhood: two cases with positive evolution.

Brain Dev 2011 Jun 2;33(6):525-9. Epub 2010 Sep 2.

Department of Child Neurology, University Hospital of Bordeaux, 33076 Bordeaux Cedex, France.

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http://dx.doi.org/10.1016/j.braindev.2010.08.008DOI Listing
June 2011

Conversion disorder and coexisting nonepileptic seizures in patients with refractory seizures.

Epilepsy Behav 2009 Oct 22;16(2):350-2. Epub 2009 Aug 22.

Laboratoire Mouvement Adaptation Cognition, Centre National de la Recherche Scientifique, Unité Mixte de Recherche 5227, Université Bordeaux 2, Bordeaux, France.

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http://dx.doi.org/10.1016/j.yebeh.2009.07.032DOI Listing
October 2009

A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy.

Eur J Hum Genet 2007 Oct 4;15(10):1054-62. Epub 2007 Jul 4.

Department of Genetics, Rouen University Hospital and INSERM U614, Institute for Biomedical Research, University of Rouen, Rouen, France.

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http://dx.doi.org/10.1038/sj.ejhg.5201885DOI Listing
October 2007

Refractory occipital lobe epilepsy treated by surgery in a child with chronic encephalitis.

Pediatr Neurosurg 2007 ;43(2):130-3

Department of Neurosurgery, CHU Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1159/000098387DOI Listing
May 2007

[Epilepsy in children and adults. First part: epilepsy in children].

Rev Prat 2004 May;54(10):1109-14

Unité de neuropédiatrie, CHU Pellegrin, 33076 Bordeaux Cedex.

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May 2004

A patient with hydranencephaly and PEHO-like dysmorphic features.

Ann Genet 2003 Jan-Mar;46(1):25-8

Service de Génétique Médicale, CHU Pellegrin-Enfants, Place Amélie Raba-Léon, 33076 cedex, Bordeaux, France.

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http://dx.doi.org/10.1016/s0003-3995(03)00003-0DOI Listing
February 2004

Topiramate: efficacy and tolerability in children according to epilepsy syndromes.

Epilepsy Res 2003 Mar;53(3):225-32

Neuropediatric Department, Cochin-Saint-Vincent de Paul University Hospital, 82 Bd Denfert-Rochereau, 75014 Paris, France.

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http://dx.doi.org/10.1016/s0920-1211(03)00028-7DOI Listing
March 2003