Publications by authors named "Miquel Raspall-Chaure"

22Publications

Clinical experience with brivaracetam in a series of 46 children.

Authors:
Núria Visa-Reñé Miquel Raspall-Chaure Fernando Paredes-Carmona Júlia Sala Coromina Alfons Macaya-Ruiz

Epilepsy Behav 2020 06 14;107:107067. Epub 2020 Apr 14.

Paediatric Neurology Department, Hospital Materno-Infantil Vall d'Hebron [Vall d'Hebron Maternity-Neonatal Hospital], Barcelona, Spain.

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June 2020

Health-related quality of life and the burden of prolonged seizures in noninstitutionalized children with epilepsy.

Authors:
Fenella J Kirkham Federico Vigevano Miquel Raspall-Chaure Bernd Wilken Dawn Lee Corinne Le Reun Tamara Werner-Kiechle Lieven Lagae

Epilepsy Behav 2020 01 13;102:106340. Epub 2019 Nov 13.

Department of Pediatric Neurology, University Hospitals, Katholieke Universiteit Leuven, Leuven, Belgium.

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January 2020

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Authors:
Vincenzo Salpietro Christine L Dixon Hui Guo Oscar D Bello Jana Vandrovcova Stephanie Efthymiou Reza Maroofian Gali Heimer Lydie Burglen Stephanie Valence Erin Torti Moritz Hacke Julia Rankin Huma Tariq Estelle Colin Vincent Procaccio Pasquale Striano Kshitij Mankad Andreas Lieb Sharon Chen Laura Pisani Conceicao Bettencourt Roope Männikkö Andreea Manole Alfredo Brusco Enrico Grosso Giovanni Battista Ferrero Judith Armstrong-Moron Sophie Gueden Omer Bar-Yosef Michal Tzadok Kristin G Monaghan Teresa Santiago-Sim Richard E Person Megan T Cho Rebecca Willaert Yongjin Yoo Jong-Hee Chae Yingting Quan Huidan Wu Tianyun Wang Raphael A Bernier Kun Xia Alyssa Blesson Mahim Jain Mohammad M Motazacker Bregje Jaeger Amy L Schneider Katja Boysen Alison M Muir Candace T Myers Ralitza H Gavrilova Lauren Gunderson Laura Schultz-Rogers Eric W Klee David Dyment Matthew Osmond Mara Parellada Cloe Llorente Javier Gonzalez-Peñas Angel Carracedo Arie Van Haeringen Claudia Ruivenkamp Caroline Nava Delphine Heron Rosaria Nardello Michele Iacomino Carlo Minetti Aldo Skabar Antonella Fabretto Miquel Raspall-Chaure Michael Chez Anne Tsai Emily Fassi Marwan Shinawi John N Constantino Rita De Zorzi Sara Fortuna Fernando Kok Boris Keren Dominique Bonneau Murim Choi Bruria Benzeev Federico Zara Heather C Mefford Ingrid E Scheffer Jill Clayton-Smith Alfons Macaya James E Rothman Evan E Eichler Dimitri M Kullmann Henry Houlden

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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July 2019

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.

Authors:
Vincenzo Salpietro Nancy T Malintan Isabel Llano-Rivas Christine G Spaeth Stephanie Efthymiou Pasquale Striano Jana Vandrovcova Maria C Cutrupi Roberto Chimenz Emanuele David Gabriella Di Rosa Anna Marce-Grau Miquel Raspall-Chaure Elena Martin-Hernandez Federico Zara Carlo Minetti Oscar D Bello Rita De Zorzi Sara Fortuna Andrew Dauber Mariam Alkhawaja Tipu Sultan Kshitij Mankad Antonio Vitobello Quentin Thomas Frederic Tran Mau-Them Laurence Faivre Francisco Martinez-Azorin Carlos E Prada Alfons Macaya Dimitri M Kullmann James E Rothman Shyam S Krishnakumar Henry Houlden

Am J Hum Genet 2019 04 28;104(4):721-730. Epub 2019 Mar 28.

Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London WC1N 3BG, UK. Electronic address:

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April 2019

Homomeric Kv7.2 current suppression is a common feature in KCNQ2 epileptic encephalopathy.

Authors:
Carolina Gomis-Pérez Janire Urrutia Anna Marcé-Grau Covadonga Malo Eduardo López-Laso Ana Felipe-Rucián Miquel Raspall-Chaure Alfons Macaya Alvaro Villarroel

Epilepsia 2019 01 26;60(1):139-148. Epub 2018 Nov 26.

Biofisika Institute, The Spanish National Research Council/University of the Basque Country, Leioa, Spain.

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January 2019

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.

Authors:
Yannay Khaikin Sarah Sidky Jose Abdenur Arnaud Anastasi Diana Ballhausen Sabrina Buoni Alicia Chan David Cheillan Nathalie Dorison Alice Goldenberg Jennifer Goldstein Floris C Hofstede Marie-Line Jacquemont Dwight D Koeberl Laurence Lion-Francois Allan Meldgaard Lund Karine Mention Helen Mundy Declan O'Rourke Gaele Pitelet Miquel Raspall-Chaure Maria Tassini Thierry Billette de Villemeur Monique Williams Gajja S Salomons Saadet Mercimek-Andrews

Eur J Paediatr Neurol 2018 May 16;22(3):369-379. Epub 2018 Feb 16.

Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address:

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May 2018

Novel GCH1 Compound Heterozygosity Mutation in Infancy-Onset Generalized Dystonia.

Authors:
Marina Flotats-Bastardas Eva Hebert Miquel Raspall-Chaure Francina Munell Alfons Macaya Katja Lohmann

Neuropediatrics 2018 08 22;49(4):296-297. Epub 2018 Feb 22.

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

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August 2018

Effect of rescue medication on seizure duration in non-institutionalized children with epilepsy.

Authors:
Federico Vigevano Fenella J Kirkham Bernd Wilken Miquel Raspall-Chaure Regina Grebla Dawn Lee Tamara Werner-Kiechle Lieven Lagae

Eur J Paediatr Neurol 2018 Jan 2;22(1):56-63. Epub 2017 Aug 2.

Pediatric Neurology, University Hospitals, Katholieke Universiteit Leuven, Leuven, Belgium.

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January 2018

Levetiracetam and Valproate Retention Rate in Juvenile Myoclonic Epilepsy.

Authors:
Jacint Sala-Padró Manuel Toledo Estevo Santamarina Montserrat González-Cuevas Miquel Raspall-Chaure Maria Sueiras-Gil Manolo Quintana Xavier Salas-Puig

Clin Neuropharmacol 2016 Nov/Dec;39(6):299-301

*Epilepsy Unit, †Neuropediatric Unit, and ‡Neurophysiology Unit, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.

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January 2017

Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe.

Authors:
Marta Vila-Pueyo Roser Pons Miquel Raspall-Chaure Anna Marcé-Grau Oriel Carreño Cèlia Sintas Bru Cormand Mercè Pineda-Marfà Alfons Macaya

J Neurol Sci 2014 Sep 17;344(1-2):37-42. Epub 2014 Jun 17.

Grup de Recerca en Neurologia Pediàtrica, Institut de Recerca Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain. Electronic address:

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September 2014

[Cost-effectiveness of buccal midazolam in the treatment of prolonged convulsive seizures in the outpatient setting in Spain].

Authors:
Miquel Raspall-Chaure Antonio Martinez-Bermejo Rocío Sanchez-Carpintero M Luz Ruiz-Falco Rojas Alfonso Verdu-Perez Patricia Smeyers-Dura Rafael Camino-Leon Francesc X Sanmarti José Santos-Borbujo Gustavo Pico Oscar Blanco-Barca M Antonia Cebollero

Rev Neurol 2014 Jun;58(11):481-6

UAM. Universidad Autonoma de Madrid. Hospital Universitario La Paz, 28046 Madrid, Espana.

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June 2014

Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.

Authors:
Saadet Mercimek-Mahmutoglu Joseph Ndika Warsha Kanhai Thierry Billette de Villemeur David Cheillan Ernst Christensen Nathalie Dorison Vickie Hannig Yvonne Hendriks Floris C Hofstede Laurence Lion-Francois Allan M Lund Helen Mundy Gaele Pitelet Miquel Raspall-Chaure Jessica A Scott-Schwoerer Katalin Szakszon Vassili Valayannopoulos Monique Williams Gajja S Salomons

Hum Mutat 2014 Apr 6;35(4):462-9. Epub 2014 Mar 6.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada; Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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April 2014

Herpes simplex virus encephalitis is a trigger of brain autoimmunity.

Authors:
Thaís Armangue Frank Leypoldt Ignacio Málaga Miquel Raspall-Chaure Itxaso Marti Charles Nichter John Pugh Monica Vicente-Rasoamalala Miguel Lafuente-Hidalgo Alfons Macaya Michael Ke Maarten J Titulaer Romana Höftberger Heather Sheriff Carol Glaser Josep Dalmau

Ann Neurol 2014 Feb 25;75(2):317-23. Epub 2014 Feb 25.

August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Neurology Service, Hospital Clinic, University of Barcelona, Barcelona, Spain; Department of Pediatric Neurology, Materno-Infantil Vall d'Hebron Hospital, Autonomous University of Barcelona, Barcelona, Spain.

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February 2014

[Aetiology and treatment of epilepsy in a series of 1,557 patients].

Authors:
Marta Torres-Ferrús Manuel Toledo Montserrat González-Cuevas Laia Seró-Ballesteros Esteban Santamarina Miquel Raspall-Chaure María Sueiras-Gil Roser Cambrodí-Masip Silvana Sarria José Álvarez-Sabín Javier Salas-Puig

Rev Neurol 2013 Oct;57(7):306-12

Hospital Universitari Vall d'Hebron, 08035 Barcelona, Espana.

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October 2013

Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.

Authors:
Lina Basel-Vanagaite Tova Hershkovitz Eli Heyman Miquel Raspall-Chaure Naseebullah Kakar Pola Smirin-Yosef Marta Vila-Pueyo Liora Kornreich Holger Thiele Harald Bode Irina Lagovsky Dvir Dahary Ami Haviv Monika Weisz Hubshman Metsada Pasmanik-Chor Peter Nürnberg Doron Gothelf Christian Kubisch Mordechai Shohat Alfons Macaya Guntram Borck

Am J Hum Genet 2013 Sep 8;93(3):524-9. Epub 2013 Aug 8.

Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva 49100, Israel.

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September 2013

Epileptic encephalopathy after HHV6 post-transplant acute limbic encephalitis in children: confirmation of a new epilepsy syndrome.

Authors:
Miquel Raspall-Chaure Thaís Armangué Izaskun Elorza Angel Sanchez-Montanez Mònica Vicente-Rasoamalala Alfons Macaya

Epilepsy Res 2013 Aug 25;105(3):419-22. Epub 2013 Mar 25.

Department of Paediatric Neurology, Hospital Universitari Vall d'Hebron, Spain.

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August 2013

[Reversible encephalopathy caused by valproic acid in an adolescent with idiopathic generalised epilepsy].

Authors:
Miquel Raspall-Chaure Elena Lainez Manuel Toledo Javier Salas-Puig Alfons Macaya-Ruiz Manuel Roig-Quilis

Rev Neurol 2012 Dec;55(11):663-8

Servicio de Neurología Pediátrica, Hospital Universitari Vall d'Hebron, Barcelona, España.

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December 2012

[Clinical variability of polymicrogiria: report of 35 new cases and review of the literature].

Authors:
Marina Flotats-Bastardas Ángel Sánchez-Montañez Elida Vázquez-Méndez Arantxa Ortega-Aznar Susanna Boronat-Guerrero Miquel Raspall-Chaure Mireia del Toro-Riera Francina Munell Alfons Macaya-Ruiz Manuel Roig-Quilis

Rev Neurol 2012 Sep;55(6):321-9

Servicio de Neuropediatría, Hospital General Universitari Vall d’Hebron, Barcelona, España.

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September 2012

Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation.

Authors:
Aintzane Urbizu Ester Cuenca-León Miquel Raspall-Chaure Margarida Gratacòs Joan Conill Susana Redecillas Manuel Roig-Quilis Alfons Macaya

J Neurol Sci 2010 Aug 8;295(1-2):110-3. Epub 2010 Jun 8.

Grup de Recerca en Neurologia Infantil, Hospital Universitari Vall d'Hebron, Barcelona, Spain.

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August 2010

The medical management of the epilepsies in children: conceptual and practical considerations.

Authors:
Miquel Raspall-Chaure Brian G Neville Rod C Scott

Lancet Neurol 2008 Jan;7(1):57-69

The National Centre for Young People with Epilepsy, Lingfield, UK.

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January 2008

The epidemiology of convulsive status epilepticus in children: a critical review.

Authors:
Miquel Raspall-Chaure Richard F M Chin Brian G Neville Helen Bedford Rod C Scott

Epilepsia 2007 Sep 18;48(9):1652-1663. Epub 2007 Jul 18.

Neurosciences Unit, UCL - Institute of Child Health, LondonEpilepsy Unit, Great Ormond Street Hospital for Children NHS Trust, LondonThe National Centre for Young People with Epilepsy, LingfieldCentre for Paediatric Epidemiology and Biostatistics, UCL - Institute of Child Health, LondonRadiology and Physics Unit, UCL - Institute of Child Health, London, United Kingdom.

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September 2007

Outcome of paediatric convulsive status epilepticus: a systematic review.

Authors:
Miquel Raspall-Chaure Richard F M Chin Brian G Neville Rod C Scott

Lancet Neurol 2006 Sep;5(9):769-79

Neurosciences Unit, University College London, Institute of Child Health, London, UK.

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September 2006