Elsa Rossignol

Elsa Rossignol

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Elsa Rossignol

Elsa Rossignol

Publications by authors named "Elsa Rossignol"

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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

New UPLC-MS/MS assay for the determination of tamoxifen and its metabolites in human plasma, application to patients.

Future Sci OA 2019 Jun 22;5(5):FSO374. Epub 2019 Mar 22.

Biopathology Department ICO René Gauducheau, Bd J Monod, 44805 Nantes Saint Herblain Cedex, France.

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http://dx.doi.org/10.2144/fsoa-2018-0113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6554689PMC
June 2019

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Am J Hum Genet 2019 May 25;104(5):815-834. Epub 2019 Apr 25.

CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507050PMC
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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019

PHACTRing in actin: actin deregulation in genetic epilepsies.

Brain 2018 11;141(11):3084-3088

CHU Sainte-Justine Research Center, Montreal, Canada.

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http://dx.doi.org/10.1093/brain/awy272DOI Listing
November 2018

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy.

Pediatr Neurol 2018 07 9;84:21-26. Epub 2018 Apr 9.

Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada; Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.03.015DOI Listing
July 2018

Ex Utero Electroporation and Organotypic Slice Cultures of Embryonic Mouse Brains for Live-Imaging of Migrating GABAergic Interneurons.

J Vis Exp 2018 04 20(134). Epub 2018 Apr 20.

Centre de recherche du CHU Sainte-Justine; Department of Neuroscience, Université de Montréal; Department of Pediatrics, Université de Montréal;

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http://dx.doi.org/10.3791/57526DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6100702PMC
April 2018

Preface.

Prog Brain Res 2016 ;226:xi-xii

Département de neurosciences, Université de Montréal, Montréal, Canada.

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http://dx.doi.org/10.1016/S0079-6123(16)30073-5DOI Listing
February 2018

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

Optic nerve hypoplasia in a patient with a de novo KIF1A heterozygous mutation.

Can J Ophthalmol 2017 10 3;52(5):e169-e171. Epub 2017 May 3.

Department of Pediatric Ophthalmology, CHU Sainte Justine Hospital, University of Montreal, Montreal, Que. Electronic address:

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http://dx.doi.org/10.1016/j.jcjo.2017.02.021DOI Listing
October 2017

Chemical Stability of Morphine, Ropivacaine, and Ziconotide in Combination for Intrathecal Analgesia.

Int J Pharm Compd 2017 Jul-Aug;21(4):347-351

Institute de Cancérologie de l'Ouest Paul Papin, Angers, France.

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September 2017

Efficacy and safety of lacosamide as an adjunctive therapy for refractory focal epilepsy in paediatric patients: a retrospective single-centre study.

Epileptic Disord 2015 Dec;17(4):436-43

CHU Sainte-Justine Research Center, Division of Neurology, Department of Neurosciences and Paediatrics, CHU Sainte Justine, University of Montreal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1684/epd.2015.0782DOI Listing
December 2015

CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

Eur J Hum Genet 2015 Nov 4;23(11):1505-12. Epub 2015 Mar 4.

Department of Pediatrics, Neurology Service, CHU Ste-Justine, U. de Montréal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1038/ejhg.2015.21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613477PMC
November 2015

Bilateral congenital corneal anesthesia in a patient with SCN9A mutation, confirmed primary erythromelalgia, and paroxysmal extreme pain disorder.

J AAPOS 2015 Oct;19(5):478-9

Department of Ophthalmology, Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montréal, Québec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jaapos.2015.05.015DOI Listing
October 2015

A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis.

Hum Mutat 2015 Aug 22;36(8):753-7. Epub 2015 Jun 22.

CHU Sainte-Justine Research Center, Montreal, Canada.

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http://dx.doi.org/10.1002/humu.22797DOI Listing
August 2015

Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy.

JIMD Rep 2015 12;22:67-75. Epub 2015 Mar 12.

Divisions of Medical Genetics (AL, AML, CBG, GM) and Neurology (PD, ER), Department of Paediatrics, Biochemical Genetics Laboratory (CBG, PA), CHU Sainte-Justine and Université de Montréal, 3175 Côte-Sainte-Catherine, Montreal, QC, Canada, H3T 1C5.

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http://dx.doi.org/10.1007/8904_2015_413DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486275PMC
July 2015

The genetic landscape of infantile spasms.

Hum Mol Genet 2014 Sep 29;23(18):4846-58. Epub 2014 Apr 29.

Department of Pediatrics and Department of Neurosciences, Université de Montréal, Montréal, QC, Canada, CHU Ste-Justine Research Center, Montréal, QC, Canada,

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddu199DOI Listing
September 2014

WONOEP appraisal: new genetic approaches to study epilepsy.

Epilepsia 2014 Aug 25;55(8):1170-86. Epub 2014 Jun 25.

Pediatric & Neuroscience Department & Brain Disease Research Group, CHU Ste-Justine, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1111/epi.12692DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4126888PMC
August 2014

Vanishing white matter disease in French-Canadian patients from Quebec.

Pediatr Neurol 2014 Aug 14;51(2):225-32. Epub 2014 May 14.

Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University Health Center, Montreal, Quebec, Canada; Department of Pediatrics, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada; Department of Pediatric Neurology, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.05.006DOI Listing
August 2014

Chronic inflammatory demyelinating polyneuropathy.

Handb Clin Neurol 2013 ;112:1163-9

Neurology Service, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montréal, Canada. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-52910-7.00037-4DOI Listing
March 2014

An atypical case of SCN9A mutation presenting with global motor delay and a severe pain disorder.

Muscle Nerve 2014 Jan 22;49(1):134-8. Epub 2013 Nov 22.

Pediatrics Department, Pediatric Neurology Division, CHU Sainte Justine, Montréal, Quebec, Canada.

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http://doi.wiley.com/10.1002/mus.23968
Publisher Site
http://dx.doi.org/10.1002/mus.23968DOI Listing
January 2014

CaV 2.1 ablation in cortical interneurons selectively impairs fast-spiking basket cells and causes generalized seizures.

Ann Neurol 2013 Aug 1;74(2):209-22. Epub 2013 Jul 1.

NYU Neuroscience Institute, New York University School of Medicine, New York, NY; Pediatric Neurology Department of Neuroscience, Saint Justine University Hospital Center, University of Montreal, Montreal, Quebec, Canada.

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http://doi.wiley.com/10.1002/ana.23913
Publisher Site
http://dx.doi.org/10.1002/ana.23913DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3849346PMC
August 2013

Satb1 is an activity-modulated transcription factor required for the terminal differentiation and connectivity of medial ganglionic eminence-derived cortical interneurons.

J Neurosci 2012 Dec;32(49):17690-705

New York University Neuroscience Institute and the Departments of Physiology and Neuroscience, NYU Langone Medical Center, New York, New York 10016, USA.

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http://dx.doi.org/10.1523/JNEUROSCI.3583-12.2012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3654406PMC
December 2012

The cell-intrinsic requirement of Sox6 for cortical interneuron development.

Neuron 2009 Aug;63(4):466-81

Smilow Neuroscience Program and the Department of Cell Biology, Smilow Research Building, New York University School of Medicine, 522 First Avenue, New York, NY 10016, USA.

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http://dx.doi.org/10.1016/j.neuron.2009.08.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2773208PMC
August 2009

Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.

Neuromuscul Disord 2009 May 11;19(5):330-4. Epub 2008 Mar 11.

Department of Neurological Sciences, CHAUQ (Enfant-Jésus), Faculty of Medicine, Laval University, Quebec City, QC, Canada.

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http://dx.doi.org/10.1016/j.nmd.2008.01.007DOI Listing
May 2009

Evolution and treatment of childhood chronic inflammatory polyneuropathy.

Pediatr Neurol 2007 Feb;36(2):88-94

Service de neurologie, Département de pédiatrie, Centre hospitalier universitaire Sainte-Justine, Montréal, Québec, Canada.

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http://dx.doi.org/10.1016/j.pediatrneurol.2006.09.012DOI Listing
February 2007