Ronald G Lafreniere

Ronald G Lafreniere

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Ronald G Lafreniere

Ronald G Lafreniere

Publications by authors named "Ronald G Lafreniere"

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27Publications

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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

Identification of novel genes involved in migraine.

Headache 2012 Oct;52 Suppl 2:107-10

Centre of Excellence in Neuroscience, Université de Montréal, Montreal, Canada.

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http://dx.doi.org/10.1111/j.1526-4610.2012.02237.xDOI Listing
October 2012

Migraine: Role of the TRESK two-pore potassium channel.

Int J Biochem Cell Biol 2011 Nov 9;43(11):1533-6. Epub 2011 Aug 9.

Center of Excellence in Neuroscience of the Université de Montréal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.biocel.2011.08.002DOI Listing
November 2011

De novo truncating mutation in Kinesin 17 associated with schizophrenia.

Biol Psychiatry 2010 Oct 19;68(7):649-56. Epub 2010 Jun 19.

Department of Medicine, Center of Excellence in Neuromics of Université de Montréal, Centre Hospitalier de l'Université de Montreal Research Center, University of Montréal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.biopsych.2010.04.018DOI Listing
October 2010

A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura.

Nat Med 2010 Oct 26;16(10):1157-60. Epub 2010 Sep 26.

Centre of Excellence in Neuromics and Department of Medicine, Université de Montréal, Centre Hospitalier de l'Université de Montréal, Research Centre, Notre-Dame Hospital, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1038/nm.2216DOI Listing
October 2010

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.

Ann Neurol 2009 Jun;65(6):748-53

Centre of Excellence in Neuromics of Université de Montréal and Synapse to Disease Group, Centre Hospitalier Universitaire Sainte-Justine Research Center, Université de Montréal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/ana.21625DOI 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

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

A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family.

Ann Neurol 2004 Oct;56(4):572-5

Centre for Research in Neurosciences and Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/ana.20237DOI Listing
October 2004

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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http://dx.doi.org/10.1016/s0920-1211(02)00259-0DOI Listing
February 2003