Publications by authors named "Nadia Bahi-Buisson"

99Publications

Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.

Eur J Paediatr Neurol 2020 May 4;26:46-60. Epub 2020 Mar 4.

Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1016/j.ejpn.2020.03.001DOI Listing
May 2020

Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability.

Neurol Genet 2019 Dec 25;5(6):e363. Epub 2019 Oct 25.

Service de Génétique (G.B., J.-P.B., S.G.-L.), Groupe Hospitalier Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; INSERM U1163 (G.B., N.B-.B., R.N.), Université Paris Descartes, PRES Sorbonne Paris Cité, Paris, France; Service de Neurologie Pédiatrique (N.C., N.B-.B., A.K., R.N.), Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Centre de Référence des Epilepsies Rares (N.C., A.K., R.N.), Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; INSERM U1129 (N.N., A.K., R.N.), Paris, France; Service de Neurophysiologie Clinique et Pédiatrie (M.K.), INSERM U1099, Hôpital Universitaire de Rennes, Université de Rennes, France; Service de Neurophysiologie Clinique (M.E., A.K.), Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Service de Génétique Clinique (V.C.), Hôpital Femme Mère Enfant, Metz-Thionville, France; Pediatric Neurology Research Group (A.M.), Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain; Service de Génétique Clinique (L.L.), Hôpital d'Enfants, CHU de Nancy, Vandoeuvre-Lès-Nancy, France; Service de Pédiatrie (F.D.), CHU de Grenoble, France; Service de Neurologie Pédiatrique (D.D., T.B.V.), Hôpital Trousseau, Assistance Publique-Hôpitaux de Paris, Paris, France; Service de Neurologie Pédiatrique (N.V., M.M.), APHM, Hôpital d'Enfants de La Timone, Marseille, France; Service de Neurologie Pédiatrique (M-.A.B., M.M.), Centre Hospitalier Universitaire de Tours, Tours, France; Département de Génétique (C.N., M.M.), Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France; Service de Radiologie Pédiatrique (N.B., M.M.), Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Université Aix-Marseille (M.M.), INSERM, MMG, UMR-S 1251, Faculté de Médecine, Marseille, France; and Unité de Neurologie Pédiatrique (S.A.), Hôpital Rober Debré, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1212/NXG.0000000000000363DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878841PMC
December 2019

Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia.

Cell Rep 2019 08;28(6):1596-1611.e10

INSERM U 1270, Paris, France; Sorbonne University, UMR-S 1270, 75005 Paris, France; Institut du Fer à Moulin, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2019.06.096DOI Listing
August 2019

Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency.

Mol Genet Metab 2019 06 3;127(2):147-157. Epub 2019 Jun 3.

Metabolic Biochemistry Laboratory, Hospital Necker Enfants Malades, APHP, University Paris Descartes, Paris, France.

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http://dx.doi.org/10.1016/j.ymgme.2019.06.001DOI Listing
June 2019

Further refinement of COL4A1 and COL4A2 related cortical malformations.

Eur J Med Genet 2018 Dec 11;61(12):765-772. Epub 2018 Oct 11.

Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Imagine Institute, Paris, France; Pediatric Neurology, APHP- Necker Enfants Malades Hospital, Paris, France; National Rare Disease Center- Centre de Référence "Déficiences Intellectuelles de Causes Rares", AP-HP, Necker Enfants Malades, 75015, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173084
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http://dx.doi.org/10.1016/j.ejmg.2018.10.004DOI Listing
December 2018

Mutations in TBR1 gene leads to cortical malformations and intellectual disability.

Eur J Med Genet 2018 Dec 27;61(12):759-764. Epub 2018 Sep 27.

Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163, Imagine Institute, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Pediatric Neurology, APHP- Necker Enfants Malades University Hospital, Paris, France; Reference Center "Déficiences Intellectuelles de Causes Rares", APHP- Necker Enfantes Malades University Hospital, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173079
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http://dx.doi.org/10.1016/j.ejmg.2018.09.012DOI Listing
December 2018

Polysomnographic findings in Rett syndrome.

Eur J Paediatr Neurol 2019 Jan 12;23(1):214-221. Epub 2018 Sep 12.

Pediatric Noninvasive Ventilation and Sleep Unit, AP-HP, Hôpital Necker-Enfants Malades, Paris, France; Paris Descartes University, Paris, France; Research Unit INSERM U 955, Team 13, Créteil, France.

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http://dx.doi.org/10.1016/j.ejpn.2018.09.003DOI Listing
January 2019

Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.

Eur J Med Genet 2018 Dec 16;61(12):755-758. Epub 2018 Aug 16.

Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163, Imagine Institute, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Pediatric Neurology APHP- Necker Enfants Malades University Hospital, Paris, France; Centre de Référence, Déficiences Intellectuelles de Causes Rares, APHP- Necker Enfants Malades University Hospital, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.08.001DOI Listing
December 2018

Next generation phenotyping using narrative reports in a rare disease clinical data warehouse.

Orphanet J Rare Dis 2018 05 31;13(1):85. Epub 2018 May 31.

Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche des Cordeliers, UMR 1138 Equipe 22, Paris Descartes, Sorbonne Paris Cité University, Paris, France.

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http://dx.doi.org/10.1186/s13023-018-0830-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5984368PMC
May 2018

TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly.

Eur J Med Genet 2018 Dec 25;61(12):729-732. Epub 2018 May 25.

Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163, Imagine Institute, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Pediatric Neurology APHP- Necker Enfants Malades University Hospital, Paris, France; Centre de Référence "Déficiences intellectuelles de causes rares", APHP- Necker Enfants Malades University Hospital, Paris, France; Genetics and development of the cerebral cortex, Institut Imagine, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173077
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http://dx.doi.org/10.1016/j.ejmg.2018.05.002DOI Listing
December 2018

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

Genetics and mechanisms leading to human cortical malformations.

Semin Cell Dev Biol 2018 04 11;76:33-75. Epub 2017 Oct 11.

INSERM UMR-S 839, 17 Rue du Fer à Moulin, Paris 75005, France; Sorbonne Universités, Université Pierre et Marie Curie, 4 Place Jussieu, Paris 75005, France; Institut du Fer à Moulin, 17 Rue du Fer à Moulin, Paris 75005, France. Electronic address:

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http://dx.doi.org/10.1016/j.semcdb.2017.09.031DOI Listing
April 2018

Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack.

J Biomed Inform 2017 09 25;73:51-61. Epub 2017 Jul 25.

INSERM, Centre de Recherche des Cordeliers, UMR 1138 Equipe 22, Université Paris Descartes, Sorbonne Paris Cité, Paris, France; Département d'informatique médicale, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Université Paris Descartes, Sorbonne Paris Cité, France; Hôpital Européen Georges Pompidou, Assistance Publique-Hôpitaux de Paris (AP-HP), Université Paris Descartes, Sorbonne Paris Cité, France.

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http://dx.doi.org/10.1016/j.jbi.2017.07.016DOI Listing
September 2017

Cryo-EM Reveals How Human Cytoplasmic Dynein Is Auto-inhibited and Activated.

Cell 2017 Jun 8;169(7):1303-1314.e18. Epub 2017 Jun 8.

MRC Laboratory of Molecular Biology, Cambridge CB2 0QH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2017.05.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473941PMC
June 2017

Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.

J Neuropathol Exp Neurol 2017 03;76(3):195-205

Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris and INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris France.

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http://dx.doi.org/10.1093/jnen/nlw124DOI 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

A novel recurrent LIS1 splice site mutation in classic lissencephaly.

Am J Med Genet A 2017 02 27;173(2):561-564. Epub 2016 Nov 27.

Imagine Institute and UMR1163, Paris Descartes-Sorbonne Paris Cité University, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.38041DOI Listing
February 2017

Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

Neurogenetics 2017 01 10;18(1):23-28. Epub 2016 Oct 10.

Department of Pediatric Neurology, Necker Enfants Malades Hospital, APHP, 149 rue de Sèvres, 75015, Paris, France.

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http://dx.doi.org/10.1007/s10048-016-0498-9DOI Listing
January 2017

Epileptic Phenotype of Two Siblings with Asparagine Synthesis Deficiency Mimics Neonatal Pyridoxine-Dependent Epilepsy.

Neuropediatrics 2016 Dec 14;47(6):399-403. Epub 2016 Aug 14.

Département de Pathologie, CHU Sainte-Justine-Université de Montréal, Quebec, Canada.

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http://dx.doi.org/10.1055/s-0036-1586222DOI Listing
December 2016

De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.

Eur J Med Genet 2016 Apr 28;59(4):249-56. Epub 2015 Dec 28.

Inserm, U1016, Institut Cochin, Paris, France; CNRS, UMR8104, Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2015.12.007DOI Listing
April 2016

Severe and Progressive Fetal Ventriculomegaly Leading to the Diagnosis of Periventricular Nodular Heterotopias with Good Outcome.

Neuropediatrics 2016 Jan 16;47(1):57-60. Epub 2015 Nov 16.

Pediatric Radiology Unit, University of Geneva Children's Hospital, Switzerland.

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http://dx.doi.org/10.1055/s-0035-1566447DOI Listing
January 2016

Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations.

Diabetes Care 2015 Nov 5;38(11):2033-41. Epub 2015 Oct 5.

Service Endocrinologie, Gynécologie et Diabétologie Pédiatrique, Hôpital Universitaire Necker Enfants Malades Paris, Assistance Publique-Hôpitaux de Paris, Paris, France Faculté de Médecine, Paris Descartes-Université Sorbonne Paris Cité, Paris, France Inserm U1016, Institut Cochin, Paris, France Inserm UMR 1163, Institut Imagine, Paris Descartes-Université Sorbonne Paris Cité, Paris, France

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http://dx.doi.org/10.2337/dc15-0837DOI Listing
November 2015

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly.

Neurogenetics 2016 Jan 19;17(1):79-82. Epub 2015 Sep 19.

Imagine Institute, Paris Descartes - Sorbonne Paris Cité University, Paris, France.

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http://dx.doi.org/10.1007/s10048-015-0459-8DOI Listing
January 2016

Rare ACTG1 variants in fetal microlissencephaly.

Eur J Med Genet 2015 Aug 16;58(8):416-8. Epub 2015 Jul 16.

Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France; Institut Imagine-INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212150011
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http://dx.doi.org/10.1016/j.ejmg.2015.06.006DOI Listing
August 2015

Epilepsy in Rett syndrome--lessons from the Rett networked database.

Epilepsia 2015 Apr 19;56(4):569-76. Epub 2015 Mar 19.

Pediatric Neurology Unit and Rett National Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1111/epi.12941DOI Listing
April 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

Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome.

Clin Neurophysiol 2015 Jul 20;126(7):1435-9. Epub 2014 Oct 20.

Laboratoire de Génétique Médicale, INSERM 1112, Faculté de Médecine, F-67085 Strasbourg, France.

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http://dx.doi.org/10.1016/j.clinph.2014.10.014DOI Listing
July 2015

Bilateral frontoparietal polymicrogyria.

Indian J Pediatr 2015 Apr 23;82(4):390-1. Epub 2014 Nov 23.

Division of Pediatric Neurology, Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India,

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http://dx.doi.org/10.1007/s12098-014-1614-1DOI Listing
April 2015

Transition issues for children with diffuse cortical malformations, multifocal postnatal lesions, (infectious and traumatic) and Lennox-Gastaut and similar syndromes.

Epilepsia 2014 Aug;55 Suppl 3:24-8

Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada; Department of Pediatrics, IWK Health Centre, Halifax, Nova Scotia, Canada.

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http://dx.doi.org/10.1111/epi.12704DOI Listing
August 2014

Late onset epileptic spasms is frequent in MECP2 gene duplication: electroclinical features and long-term follow-up of 8 epilepsy patients.

Eur J Paediatr Neurol 2014 Jul 26;18(4):475-81. Epub 2014 Mar 26.

APHP, Hôpital Robert Debré, Service de Neurologie Pédiatrique, 75019 Paris, France; Inserm, U676, 75019 Paris, France; Univ Paris Diderot, Sorbonne Paris Cité, INSERM UMR676, 75019 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2014.03.005DOI Listing
July 2014

Not all myoclonic jerking and tonic posturing in the neonate is epilepsy.

J Pediatr 2014 Mar 12;164(3):664.e1. Epub 2013 Dec 12.

Department of Neonatology, Hôpital Necker-Enfants Malades, Paris, France; Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1016/j.jpeds.2013.10.073DOI Listing
March 2014

Diffuse malformations of cortical development.

Handb Clin Neurol 2013 ;111:653-65

Department of Pediatric Neurology, Université Paris Descartes; Imaging Institute; INSERM U781, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-52891-9.00068-3DOI Listing
April 2014

Epilepsy in inborn errors of metabolism.

Handb Clin Neurol 2013 ;111:533-41

Department of Pediatric Neurology, Université Paris Descartes; Imaging Institute; INSERM U781, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-52891-9.00056-7DOI Listing
April 2014

Genetically determined encephalopathy: Rett syndrome.

Handb Clin Neurol 2013 ;111:281-6

Department of Pediatric Neurology, Université Paris Descartes; Imaging Institute; INSERM U781, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-52891-9.00031-2DOI Listing
April 2014

MeCP2 deficiency is associated with impaired microtubule stability.

FEBS Lett 2013 Jan 10;587(2):245-53. Epub 2012 Dec 10.

Université Paris Descartes, CNRS UMR 8104, Institut Cochin, Laboratoire de Génétique des Maladies Neurodéveloppementales, Paris, France.

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http://dx.doi.org/10.1016/j.febslet.2012.11.033DOI Listing
January 2013

Atypical presentation of neuropsychiatric lupus with acanthosis nigricans.

Pediatr Neurol 2012 Oct;47(4):291-4

Department of Dermatology, Necker-Enfants Malades Hospital, Assistance Publique-Hopitaux de Paris, Paris Descartes University, Paris, France.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.06.005DOI Listing
October 2012

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.

Eur J Hum Genet 2013 Feb 18;21(2):195-9. Epub 2012 Jul 18.

INSERM U781, Département de Génétique et de Radiologie Pédiatrique, Fondation IMAGINE, Université Paris Descartes, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2012.140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548256PMC
February 2013

The phenotype associated with a large deletion on MECP2.

Eur J Hum Genet 2012 Sep 4;20(9):921-7. Epub 2012 Apr 4.

Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1038/ejhg.2012.34DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3421119PMC
September 2012

Altered microtubule dynamics in Mecp2-deficient astrocytes.

J Neurosci Res 2012 May 18;90(5):990-8. Epub 2012 Jan 18.

Université Paris Descartes, CNRS UMR 8104, Institut Cochin, Laboratoire de Génétique des Maladies Neurodéveloppementales, Paris, France.

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http://dx.doi.org/10.1002/jnr.23001DOI Listing
May 2012