Patrick Cossette

Patrick Cossette

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Patrick Cossette

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γ-Aminobutyric acid receptor alpha 1 subunit loss of function causes genetic generalized epilepsy by impairing inhibitory network neurodevelopment.

Epilepsia 2018 11 15;59(11):2061-2074. Epub 2018 Oct 15.

Department of Neurosciences, Research Center of the University of Montreal Hospital Center, University of Montreal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1111/epi.14576DOI Listing
November 2018

Effects of SYN1 mutation on cortical gray matter microstructure.

Hum Brain Mapp 2018 08 19;39(8):3428-3448. Epub 2018 Apr 19.

Centre Hospitalier de l'Université de Montréal (CHUM), Montréal, Québec.

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http://doi.wiley.com/10.1002/hbm.24186
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http://dx.doi.org/10.1002/hbm.24186DOI Listing
August 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

Human copy number variants are enriched in regions of low mappability.

Nucleic Acids Res 2018 08;46(14):7236-7249

Department of Human Genetics, McGill University, Montréal H3A 1B1, Canada.

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http://dx.doi.org/10.1093/nar/gky538DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6101599PMC
August 2018

Analysis of shared heritability in common disorders of the brain.

Authors:
Verneri Anttila Brendan Bulik-Sullivan Hilary K Finucane Raymond K Walters Jose Bras Laramie Duncan Valentina Escott-Price Guido J Falcone Padhraig Gormley Rainer Malik Nikolaos A Patsopoulos Stephan Ripke Zhi Wei Dongmei Yu Phil H Lee Patrick Turley Benjamin Grenier-Boley Vincent Chouraki Yoichiro Kamatani Claudine Berr Luc Letenneur Didier Hannequin Philippe Amouyel Anne Boland Jean-François Deleuze Emmanuelle Duron Badri N Vardarajan Christiane Reitz Alison M Goate Matthew J Huentelman M Ilyas Kamboh Eric B Larson Ekaterina Rogaeva Peter St George-Hyslop Hakon Hakonarson Walter A Kukull Lindsay A Farrer Lisa L Barnes Thomas G Beach F Yesim Demirci Elizabeth Head Christine M Hulette Gregory A Jicha John S K Kauwe Jeffrey A Kaye James B Leverenz Allan I Levey Andrew P Lieberman Vernon S Pankratz Wayne W Poon Joseph F Quinn Andrew J Saykin Lon S Schneider Amanda G Smith Joshua A Sonnen Robert A Stern Vivianna M Van Deerlin Linda J Van Eldik Denise Harold Giancarlo Russo David C Rubinsztein Anthony Bayer Magda Tsolaki Petra Proitsi Nick C Fox Harald Hampel Michael J Owen Simon Mead Peter Passmore Kevin Morgan Markus M Nöthen Martin Rossor Michelle K Lupton Per Hoffmann Johannes Kornhuber Brian Lawlor Andrew McQuillin Ammar Al-Chalabi Joshua C Bis Agustin Ruiz Mercè Boada Sudha Seshadri Alexa Beiser Kenneth Rice Sven J van der Lee Philip L De Jager Daniel H Geschwind Matthias Riemenschneider Steffi Riedel-Heller Jerome I Rotter Gerhard Ransmayr Bradley T Hyman Carlos Cruchaga Montserrat Alegret Bendik Winsvold Priit Palta Kai-How Farh Ester Cuenca-Leon Nicholas Furlotte Tobias Kurth Lannie Ligthart Gisela M Terwindt Tobias Freilinger Caroline Ran Scott D Gordon Guntram Borck Hieab H H Adams Terho Lehtimäki Juho Wedenoja Julie E Buring Markus Schürks Maria Hrafnsdottir Jouke-Jan Hottenga Brenda Penninx Ville Artto Mari Kaunisto Salli Vepsäläinen Nicholas G Martin Grant W Montgomery Mitja I Kurki Eija Hämäläinen Hailiang Huang Jie Huang Cynthia Sandor Caleb Webber Bertram Muller-Myhsok Stefan Schreiber Veikko Salomaa Elizabeth Loehrer Hartmut Göbel Alfons Macaya Patricia Pozo-Rosich Thomas Hansen Thomas Werge Jaakko Kaprio Andres Metspalu Christian Kubisch Michel D Ferrari Andrea C Belin Arn M J M van den Maagdenberg John-Anker Zwart Dorret Boomsma Nicholas Eriksson Jes Olesen Daniel I Chasman Dale R Nyholt Andreja Avbersek Larry Baum Samuel Berkovic Jonathan Bradfield Russell J Buono Claudia B Catarino Patrick Cossette Peter De Jonghe Chantal Depondt Dennis Dlugos Thomas N Ferraro Jacqueline French Helle Hjalgrim Jennifer Jamnadas-Khoda Reetta Kälviäinen Wolfram S Kunz Holger Lerche Costin Leu Dick Lindhout Warren Lo Daniel Lowenstein Mark McCormack Rikke S Møller Anne Molloy Ping-Wing Ng Karen Oliver Michael Privitera Rodney Radtke Ann-Kathrin Ruppert Thomas Sander Steven Schachter Christoph Schankin Ingrid Scheffer Susanne Schoch Sanjay M Sisodiya Philip Smith Michael Sperling Pasquale Striano Rainer Surges G Neil Thomas Frank Visscher Christopher D Whelan Federico Zara Erin L Heinzen Anthony Marson Felicitas Becker Hans Stroink Fritz Zimprich Thomas Gasser Raphael Gibbs Peter Heutink Maria Martinez Huw R Morris Manu Sharma Mina Ryten Kin Y Mok Sara Pulit Steve Bevan Elizabeth Holliday John Attia Thomas Battey Giorgio Boncoraglio Vincent Thijs Wei-Min Chen Braxton Mitchell Peter Rothwell Pankaj Sharma Cathie Sudlow Astrid Vicente Hugh Markus Christina Kourkoulis Joana Pera Miriam Raffeld Scott Silliman Vesna Boraska Perica Laura M Thornton Laura M Huckins N William Rayner Cathryn M Lewis Monica Gratacos Filip Rybakowski Anna Keski-Rahkonen Anu Raevuori James I Hudson Ted Reichborn-Kjennerud Palmiero Monteleone Andreas Karwautz Katrin Mannik Jessica H Baker Julie K O'Toole Sara E Trace Oliver S P Davis Sietske G Helder Stefan Ehrlich Beate Herpertz-Dahlmann Unna N Danner Annemarie A van Elburg Maurizio Clementi Monica Forzan Elisa Docampo Jolanta Lissowska Joanna Hauser Alfonso Tortorella Mario Maj Fragiskos Gonidakis Konstantinos Tziouvas Hana Papezova Zeynep Yilmaz Gudrun Wagner Sarah Cohen-Woods Stefan Herms Antonio Julià Raquel Rabionet Danielle M Dick Samuli Ripatti Ole A Andreassen Thomas Espeseth Astri J Lundervold Vidar M Steen Dalila Pinto Stephen W Scherer Harald Aschauer Alexandra Schosser Lars Alfredsson Leonid Padyukov Katherine A Halmi James Mitchell Michael Strober Andrew W Bergen Walter Kaye Jin Peng Szatkiewicz Bru Cormand Josep Antoni Ramos-Quiroga Cristina Sánchez-Mora Marta Ribasés Miguel Casas Amaia Hervas Maria Jesús Arranz Jan Haavik Tetyana Zayats Stefan Johansson Nigel Williams Astrid Dempfle Aribert Rothenberger Jonna Kuntsi Robert D Oades Tobias Banaschewski Barbara Franke Jan K Buitelaar Alejandro Arias Vasquez Alysa E Doyle Andreas Reif Klaus-Peter Lesch Christine Freitag Olga Rivero Haukur Palmason Marcel Romanos Kate Langley Marcella Rietschel Stephanie H Witt Soeren Dalsgaard Anders D Børglum Irwin Waldman Beth Wilmot Nikolas Molly Claiton H D Bau Jennifer Crosbie Russell Schachar Sandra K Loo James J McGough Eugenio H Grevet Sarah E Medland Elise Robinson Lauren A Weiss Elena Bacchelli Anthony Bailey Vanessa Bal Agatino Battaglia Catalina Betancur Patrick Bolton Rita Cantor Patrícia Celestino-Soper Geraldine Dawson Silvia De Rubeis Frederico Duque Andrew Green Sabine M Klauck Marion Leboyer Pat Levitt Elena Maestrini Shrikant Mane Daniel Moreno- De-Luca Jeremy Parr Regina Regan Abraham Reichenberg Sven Sandin Jacob Vorstman Thomas Wassink Ellen Wijsman Edwin Cook Susan Santangelo Richard Delorme Bernadette Rogé Tiago Magalhaes Dan Arking Thomas G Schulze Robert C Thompson Jana Strohmaier Keith Matthews Ingrid Melle Derek Morris Douglas Blackwood Andrew McIntosh Sarah E Bergen Martin Schalling Stéphane Jamain Anna Maaser Sascha B Fischer Céline S Reinbold Janice M Fullerton José Guzman-Parra Fermin Mayoral Peter R Schofield Sven Cichon Thomas W Mühleisen Franziska Degenhardt Johannes Schumacher Michael Bauer Philip B Mitchell Elliot S Gershon John Rice James B Potash Peter P Zandi Nick Craddock I Nicol Ferrier Martin Alda Guy A Rouleau Gustavo Turecki Roel Ophoff Carlos Pato Adebayo Anjorin Eli Stahl Markus Leber Piotr M Czerski Cristiana Cruceanu Ian R Jones Danielle Posthuma Till F M Andlauer Andreas J Forstner Fabian Streit Bernhard T Baune Tracy Air Grant Sinnamon Naomi R Wray Donald J MacIntyre David Porteous Georg Homuth Margarita Rivera Jakob Grove Christel M Middeldorp Ian Hickie Michele Pergadia Divya Mehta Johannes H Smit Rick Jansen Eco de Geus Erin Dunn Qingqin S Li Matthias Nauck Robert A Schoevers Aartjan Tf Beekman James A Knowles Alexander Viktorin Paul Arnold Cathy L Barr Gabriel Bedoya-Berrio O Joseph Bienvenu Helena Brentani Christie Burton Beatriz Camarena Carolina Cappi Danielle Cath Maria Cavallini Daniele Cusi Sabrina Darrow Damiaan Denys Eske M Derks Andrea Dietrich Thomas Fernandez Martijn Figee Nelson Freimer Gloria Gerber Marco Grados Erica Greenberg Gregory L Hanna Andreas Hartmann Matthew E Hirschtritt Pieter J Hoekstra Alden Huang Chaim Huyser Cornelia Illmann Michael Jenike Samuel Kuperman Bennett Leventhal Christine Lochner Gholson J Lyon Fabio Macciardi Marcos Madruga-Garrido Irene A Malaty Athanasios Maras Lauren McGrath Eurípedes C Miguel Pablo Mir Gerald Nestadt Humberto Nicolini Michael S Okun Andrew Pakstis Peristera Paschou John Piacentini Christopher Pittenger Kerstin Plessen Vasily Ramensky Eliana M Ramos Victor Reus Margaret A Richter Mark A Riddle Mary M Robertson Veit Roessner Maria Rosário Jack F Samuels Paul Sandor Dan J Stein Fotis Tsetsos Filip Van Nieuwerburgh Sarah Weatherall Jens R Wendland Tomasz Wolanczyk Yulia Worbe Gwyneth Zai Fernando S Goes Nicole McLaughlin Paul S Nestadt Hans-Jorgen Grabe Christel Depienne Anuar Konkashbaev Nuria Lanzagorta Ana Valencia-Duarte Elvira Bramon Nancy Buccola Wiepke Cahn Murray Cairns Siow A Chong David Cohen Benedicto Crespo-Facorro James Crowley Michael Davidson Lynn DeLisi Timothy Dinan Gary Donohoe Elodie Drapeau Jubao Duan Lieuwe Haan David Hougaard Sena Karachanak-Yankova Andrey Khrunin Janis Klovins Vaidutis Kučinskas Jimmy Lee Chee Keong Svetlana Limborska Carmel Loughland Jouko Lönnqvist Brion Maher Manuel Mattheisen Colm McDonald Kieran C Murphy Igor Nenadic Jim van Os Christos Pantelis Michele Pato Tracey Petryshen Digby Quested Panos Roussos Alan R Sanders Ulrich Schall Sibylle G Schwab Kang Sim Hon-Cheong So Elisabeth Stögmann Mythily Subramaniam Draga Toncheva John Waddington James Walters Mark Weiser Wei Cheng Robert Cloninger David Curtis Pablo V Gejman Frans Henskens Morten Mattingsdal Sang-Yun Oh Rodney Scott Bradley Webb Gerome Breen Claire Churchhouse Cynthia M Bulik Mark Daly Martin Dichgans Stephen V Faraone Rita Guerreiro Peter Holmans Kenneth S Kendler Bobby Koeleman Carol A Mathews Alkes Price Jeremiah Scharf Pamela Sklar Julie Williams Nicholas W Wood Chris Cotsapas Aarno Palotie Jordan W Smoller Patrick Sullivan Jonathan Rosand Aiden Corvin Benjamin M Neale Jonathan M Schott Richard Anney Josephine Elia Maria Grigoroiu-Serbanescu Howard J Edenberg Robin Murray

Science 2018 06;360(6395)

Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.

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http://dx.doi.org/10.1126/science.aap8757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097237PMC
June 2018

The clinical impact of integration of magnetoencephalography in the presurgical workup for refractory nonlesional epilepsy.

Epilepsy Behav 2018 02 15;79:34-41. Epub 2017 Dec 15.

Division of Neurology, Notre-Dame Hospital (CHUM), University of Montréal, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15255050173072
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http://dx.doi.org/10.1016/j.yebeh.2017.10.036DOI 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

FHF1 (FGF12) epileptic encephalopathy.

Neurol Genet 2016 Dec 28;2(6):e115. Epub 2016 Oct 28.

Program in Genetics and Genome Biology and Division of Neurology (S.A.-M., B.A.M.), Department of Paediatrics, The Hospital for Sick Children, and University of Toronto, Ontario, Canada; Institute of Genetic Medicine (M.S.), International Centre for Life, Pediatric Neurology (V.R.), Newcastle General Hospital, UK; Center for Human Genetics (S.D., K.D.), UH Case Medical Center, Cleveland, OH; Department of Molecular and Human Genetics (F.X., Y.Y., J.A.R.), Baylor College of Medicine, Houston, TX; Baylor Miraca Genetics Laboratories (F.X., Y.Y.), Houston, TX; The Deciphering Developmental Disorders (DDD) Study, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK; Division of Neurology (P.C.), CHUM Notre-Dame, Hospital University of Montreal, Quebec, Canada; Department of Pediatrics (J.L.M., P.M.C.), Department of Neurosciences (J.L.M., P.M.C.), Université de Montréal, Québec, Canada; and CHU Sainte-Justine Research Center (J.L.M., F.A.H., P.M.C.), Montreal, Quebec, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5087254PMC
December 2016

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).

Neurology 2016 Aug 13;87(6):579-84. Epub 2016 Jul 13.

From the Epilepsy Research Centre, Department of Medicine (S.F.B., K.L.O., J.A.D., M.S.H.), University of Melbourne, Austin Health, Heidelberg, Australia; Biogen, Inc. (J.F.S.), Cambridge, MA; Department of Pathology (S.C.), Centro Hospitalar São João, Porto, Portugal; Institute of Inherited Metabolic Disorders (S.K., I.J., A.P.), First Faculty of Medicine, Charles University in Prague; General University Hospital in Prague (S.K.), Czech Republic; Great Ormond Street Hospital for Children NHS Foundation Trust (G.W.A.), London, UK; Center for Human Genetic Research and Department of Neurology (K.B.S., S.L.C.), Harvard Medical School, Massachusetts General Hospital, Boston; Population Health and Immunity Division (M.B., K.R.S.), The Walter and Eliza Hall Institute of Medical Research; Departments of Mathematics and Statistics and Medical Biology (M.B.), University of Melbourne, Australia; Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.C.-D., P.C.), University of Montreal, Canada; and MRC Laboratory for Cell Biology (S.E.M.), Department of Genetics, Evolution & Environment and UCL Institute of Child Health, University College London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000002943DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4977374PMC
August 2016

Two definite cases of sudden unexpected death in epilepsy in a family with a DEPDC5 mutation.

Neurol Genet 2015 Dec 15;1(4):e28. Epub 2015 Oct 15.

Division of Neurology (F.A.N., F.B., D.M.A.), Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Ontario, Canada; CHUM Research Center (P.C.), University of Montreal, Quebec, Canada; and Division of Neurology (B.A.M., D.M.A.), Program in Genetics and Genome Biology, The Hospital for Sick Children, University of Toronto, Ontario, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811380PMC
December 2015

X-linked focal epilepsy with reflex bathing seizures: Characterization of a distinct epileptic syndrome.

Epilepsia 2015 Jul 19;56(7):1098-108. Epub 2015 Jun 19.

Division of Neurology, CHUM Notre-Dame, Hospital University of Montreal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1111/epi.13042DOI Listing
July 2015

Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.

Ann Neurol 2015 Apr 13;77(4):675-83. Epub 2015 Mar 13.

Sorbonne Universités, Pierre and Marie Curie University, UPMC Univ Paris 06, UM 75, ICM, Paris, France; National Institute of Health and Medical Research, INSERM U1127, ICM, Paris, France; National Center for Scientific Research, CNRS, UMR 7225, ICM, Paris, France; Brain and Spine Institute, Institut du Cerveau et de la Moelle (ICM), Paris, France.

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http://dx.doi.org/10.1002/ana.24368DOI Listing
April 2015

Single-cell genetic expression of mutant GABAA receptors causing Human genetic epilepsy alters dendritic spine and GABAergic bouton formation in a mutation-specific manner.

Front Cell Neurosci 2014 14;8:317. Epub 2014 Oct 14.

Centre d'Excellence en Neuromique de l'Université de Montréal, Centre de Recherche, Centre Hospitalier de l'Université de Montréal, Université de Montréal Montréal, QC, Canada.

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http://dx.doi.org/10.3389/fncel.2014.00317DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4196543PMC
October 2014

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

Endo-MitoEGFP mice: a novel transgenic mouse with fluorescently marked mitochondria in microvascular endothelial cells.

PLoS One 2013 3;8(9):e74603. Epub 2013 Sep 3.

Centre d'Excellence en Neuromique de l'Université de Montréal, Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CRCHUM), Université de Montréal, Montréal, Quebec, Canada ; Department of Biochemistry, Université de Montréal, Montréal, Quebec, Canada.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0074603PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3760848PMC
May 2014

De novo mutations in epileptic encephalopathies.

Nature 2013 Sep 11;501(7466):217-21. Epub 2013 Aug 11.

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http://dx.doi.org/10.1038/nature12439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3773011PMC
September 2013

Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity.

Hum Mol Genet 2013 Jun 12;22(11):2186-99. Epub 2013 Feb 12.

Department of Neuroscience and Brain Technologies, Istituto Italiano di Tecnologia, Via Morego 30, Genova 16163, Italy.

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http://dx.doi.org/10.1093/hmg/ddt071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3652419PMC
June 2013

Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.

Eur J Neurosci 2011 Jul 30;34(2):237-49. Epub 2011 Jun 30.

Centre for Excellence in Neuromics of University of Montreal, CHUM Research Center, 1560 Sherbrooke est, Montreal, QC, Canada H2L 4M1.

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http://dx.doi.org/10.1111/j.1460-9568.2011.07767.xDOI Listing
July 2011

Audit of EEG reporting temporal abnormalities.

Can J Neurol Sci 2010 Nov;37(6):819-25

Service de neurologie, Centre hospitalier de l'Université de Montréal - Hôpital Notre-Dame, Montréal, Québec, Canada.

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November 2010

Value of 3.0 T MR imaging in refractory partial epilepsy and negative 1.5 T MRI.

Seizure 2010 Oct 29;19(8):475-8. Epub 2010 Jul 29.

Service de Neurologie, Hôpital Notre-Dame du CHUM, Université de Montréal, Canada.

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http://dx.doi.org/10.1016/j.seizure.2010.07.002DOI Listing
October 2010

Screening of GABRB3 in French-Canadian families with idiopathic generalized epilepsy.

Epilepsia 2010 Sep;51(9):1894-7

CHUM Research Center, Hôpital Notre-Dame, Centre d'Excellence en Neuromique de l'Université de Montréal, Montréal, Québec, Canada.

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http://doi.wiley.com/10.1111/j.1528-1167.2010.02642.x
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http://dx.doi.org/10.1111/j.1528-1167.2010.02642.xDOI Listing
September 2010

Channelopathies and juvenile myoclonic epilepsy.

Authors:
Patrick Cossette

Epilepsia 2010 Feb;51 Suppl 1:30-2

Department of Medicine, Neurology Division, Centre Hospitalier de l'Université de Montréal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1111/j.1528-1167.2009.02439.xDOI Listing
February 2010

Risk factors for valproic acid resistance in childhood absence epilepsy.

Seizure 2009 Dec;18(10):690-4

Department of Paediatrics, Division of Neurology, CHU Sainte-Justine, 3175 Côte-Ste-Catherine, Montreal, Quebec, H3T 1C5 Canada.

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http://dx.doi.org/10.1016/j.seizure.2009.09.007DOI Listing
December 2009

Microsurgery of epileptic foci in the insular region.

J Neurosurg 2009 Jun;110(6):1153-63

Departments of Neurosurgery, Centre Hospitalier de l'Université de Montréal, Notre-Dame Hospital, Montréal, Québec, Canada.

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http://dx.doi.org/10.3171/2009.1.JNS08807DOI Listing
June 2009

Novel de novo SHANK3 mutation in autistic patients.

Am J Med Genet B Neuropsychiatr Genet 2009 Apr;150B(3):421-4

Centre of Excellence in Neuromics of Université de Montréal, CHUM Research Centre, Notre-Dame Hospital, Université de Montréal, Montreal, QC, Canada.

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http://dx.doi.org/10.1002/ajmg.b.30822DOI Listing
April 2009

A retrospective study on aetiology based outcome of infantile spasms.

Seizure 2009 Apr 30;18(3):197-201. Epub 2008 Oct 30.

Hôpital Sainte-Justine, Département de Pédiatrie, Université de Montréal, Canada.

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http://dx.doi.org/10.1016/j.seizure.2008.09.006DOI Listing
April 2009

Revisiting the role of the insula in refractory partial epilepsy.

Epilepsia 2009 Mar;50(3):510-20

Service de Neurologie, Université de Montréal, Montréal, Québec, Canada.

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http://dx.doi.org/10.1111/j.1528-1167.2008.01758.xDOI Listing
March 2009

Potentially life-threatening ictal bradycardia in intractable epilepsy.

Can J Neurol Sci 2009 Jan;36(1):32-5

Department of Medicine, Neurology Division, Montreal University Health Centre, Montreal, Quebec, Canada.

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January 2009

Mutations in the calcium-related gene IL1RAPL1 are associated with autism.

Hum Mol Genet 2008 Dec 18;17(24):3965-74. Epub 2008 Sep 18.

Centre for Excellence in Neuromics, CHUM Research Center and Department of Medicine, University of Montreal, Montreal, QC, Canada H2L 4M1.

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http://dx.doi.org/10.1093/hmg/ddn300DOI Listing
December 2008

Phenotypic concordance in 70 families with IGE-implications for genetic studies of epilepsy.

Epilepsy Res 2008 Nov 23;82(1):21-28. Epub 2008 Aug 23.

Centre for the Study of Brain Diseases, University of Montreal, 2099 Alexander de Seve, Montreal, QC H2L 4W5, Canada.

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http://dx.doi.org/10.1016/j.eplepsyres.2008.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2762318PMC
November 2008

SPG4 founder effect in French Canadians with hereditary spastic paraplegia.

Can J Neurol Sci 2007 May;34(2):211-4

Center for the Study of Brain Diseases, CHUM Research Center, Notre-Dame Hospital, Montreal, QC, Canada.

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May 2007

Genetic influence on the clinical characteristics and outcome of febrile seizures--a retrospective study.

Eur J Paediatr Neurol 2005 23;9(5):339-45. Epub 2005 Jun 23.

Faculté de Médecine, Centre de Recherche de l'Hôpital Sainte-Justine, Université de Montréal, 3175 Côte Ste-Catherine, Montréal, Que., Canada H3T 1C5.

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http://dx.doi.org/10.1016/j.ejpn.2005.03.001DOI Listing
April 2007

Lamotrigine therapy of epilepsy with Angelman's syndrome.

Epilepsia 2007 Mar 22;48(3):593-6. Epub 2007 Feb 22.

Centre Hospitalier Université de Montréal (Hôpital Notre-Dame), Montréal, Canada.

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http://dx.doi.org/10.1111/j.1528-1167.2006.00969.xDOI Listing
March 2007

Generalized epilepsy and classic spike-wave discharges with unilateral thalamic lesions.

Arch Neurol 2006 Sep;63(9):1321-3

Department of Neurology, Centre Hospitalier Université de Montréal (Hôpital Notre-Dame), 1560 Sherbrooke E., Montréal, Quebec.

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http://dx.doi.org/10.1001/archneur.63.9.1321DOI Listing
September 2006

Monogenic epilepsies in humans: molecular mechanisms and relevance for the study of intractable epilepsy.

Adv Neurol 2006 ;97:381-8

Neurogenetic Unit, University of Montreal Health Centre (CHUM), Montreal, Quebec, Canada.

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February 2006

Sacred disease secrets revealed: the genetics of human epilepsy.

Hum Mol Genet 2005 Oct;14 Spec No. 2:2491-2500

Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8.

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October 2005

Sacred disease secrets revealed: the genetics of human epilepsy.

Hum Mol Genet 2005 Sep 27;14(17):2491-500. Epub 2005 Jul 27.

The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada.

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http://dx.doi.org/10.1093/hmg/ddi250DOI Listing
September 2005

Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy.

Eur J Neurosci 2005 Jul;22(1):10-20

Neurologische Klinik, Medizinische Hochschule Hannover, Carl-Neuberg-Str. 1, 30625 Hannover, Germany.

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http://dx.doi.org/10.1111/j.1460-9568.2005.04168.xDOI Listing
July 2005

Autosomal dominant juvenile myoclonic epilepsy and GABRA1.

Adv Neurol 2005 ;95:255-63

Centre Hospitalier de l'Université de Montréal-Hôpital Notre-Dame, Montréal, Québec, Canada.

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December 2004

A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1.

Ann Neurol 2004 Oct;56(4):579-82

Centre for Research in Neuroscience and McGill University Health Centre Research Institute, Montreal, Quebec, Canada.

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http://doi.wiley.com/10.1002/ana.20239
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http://dx.doi.org/10.1002/ana.20239DOI Listing
October 2004

Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene.

Arch Neurol 2003 Sep;60(9):1307-12

Service de neurologie et Unité de Neurogénétique, Centre Hospitalier de l'Université de Montréal-Hôpital Notre-Dame, Montréal, Québec, Canada.

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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/arc
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http://dx.doi.org/10.1001/archneur.60.9.1307DOI Listing
September 2003

Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS).

Epilepsy Res 2003 Feb;53(1-2):107-17

Center for Research in Neuroscience, McGill University Health Center Research Institute, McGill University, The Montreal General Hospital, 1650 Cedar Avenue, Quebec, H3G 1A4, Montreal, Canada.

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February 2003

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.

Nat Genet 2002 Jun 6;31(2):184-9. Epub 2002 May 6.

Centre for Research in Neuroscience, McGill University Health Center Research Institute and McGill University, 1650 Cedar Avenue, Montréal, Québec H3G 1A4, Canada.

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http://dx.doi.org/10.1038/ng885DOI Listing
June 2002