Myriam Srour

Myriam Srour

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Myriam Srour

Publications by authors named "Myriam Srour"

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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 Jun 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 2019

Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia.

Neurogenetics 2019 05 28;20(2):103-108. Epub 2019 Mar 28.

Departments of Pediatrics, Neurology & Neurosurgery, MUHC-Research Institute, McGill University, 1001 Blvd Décarie, Montreal, H4A 3J1, Canada.

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http://link.springer.com/10.1007/s10048-019-00572-7
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http://dx.doi.org/10.1007/s10048-019-00572-7DOI Listing
May 2019

Developmental outcomes in children with congenital cerebellar malformations.

Dev Med Child Neurol 2019 03 15;61(3):350-358. Epub 2018 Oct 15.

Division of Pediatric Neurology, Department of Pediatrics, Neurology/Neurosurgery, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.

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http://doi.wiley.com/10.1111/dmcn.14059
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http://dx.doi.org/10.1111/dmcn.14059DOI Listing
March 2019

Diagnostic Yield of Intellectual Disability Gene Panels.

Pediatr Neurol 2019 Mar 22;92:32-36. Epub 2018 Nov 22.

Division of Pediatric Neurology, Departments of Pediatrics and Neurology & Neurosurgery, McGill University, Montreal, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.11.005DOI Listing
March 2019

Hemiconvulsion-Hemiplegia-Epilepsy in a girl with cobalamin C deficiency.

Epileptic Disord 2018 Dec;20(6):545-550

Division of Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University,, Department of Neurology and Neurosurgery, McGill University,, Research Institute of the McGill University Health Centre.

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http://www.john-libbey-eurotext.fr/medline.md?doi=10.1684/ep
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http://dx.doi.org/10.1684/epd.2018.1017DOI Listing
December 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

Teaching Video NeuroImages: Figure 8 head-shaking stereotypy in rhombencephalosynapsis.

Neurology 2018 05;90(20):e1832-e1833

From the Departments of Pediatrics (A.A., M.S.) and Neurology and Neurosurgery (M.S.), McGill University, Montreal, Canada; Istituto Giannina Gaslini (A.A.), Genova; and Università degli Studi di Genova (A.A.), Italy.

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http://dx.doi.org/10.1212/WNL.0000000000005531DOI Listing
May 2018

A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.

Am J Med Genet A 2018 04 12;176(4):985-991. Epub 2018 Feb 12.

Department of Pediatrics, McGill University, Montreal, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38628DOI Listing
April 2018

DCC Is Required for the Development of Nociceptive Topognosis in Mice and Humans.

Cell Rep 2018 01;22(5):1105-1114

Neural Circuit Development Laboratory, Institut de Recherches Cliniques de Montréal (IRCM), Montreal, QC, Canada; Integrated Program in Neuroscience, McGill University, Montreal, QC, Canada; Department of Anatomy and Cell Biology, Division of Experimental Medicine, McGill University, Montreal, QC, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2018.01.004DOI Listing
January 2018

Sub-cortical brain morphometry and its relationship with cognition in rolandic epilepsy.

Epilepsy Res 2017 12 7;138:39-45. Epub 2017 Oct 7.

CHU Sainte-Justine, Montreal, Quebec, Canada; University of Montreal, Department of Psychology, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.eplepsyres.2017.09.007DOI Listing
December 2017

Intravenous Immunoglobulin as a Treatment for Intractable Epilepsy Secondary to Focal Cortical Dysplasia: A Meta-analysis.

Pediatr Neurol 2017 Nov 19;76:79-81. Epub 2017 Jul 19.

Division of Pediatric Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, Canada; Research Institute, McGill University Health Center, Montreal, Quebec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.07.009DOI Listing
November 2017

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

Distal 22q11.2 Microduplication: Case Report and Review of the Literature.

Child Neurol Open 2017 Jan-Dec;4:2329048X17737651. Epub 2017 Nov 1.

Division of Pediatric Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre (MUHC), Montreal, Québec, Canada.

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http://dx.doi.org/10.1177/2329048X17737651DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673001PMC
November 2017

Clinical and Radiologic Spectrum of Septo-optic Dysplasia: Review of 17 Cases.

J Child Neurol 2017 08 8;32(9):797-803. Epub 2017 May 8.

2 Departments of Pediatrics, Neurology, and Neurosurgery, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1177/0883073817707300DOI Listing
August 2017

Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet.

Am J Med Genet A 2017 Jun 21;173(6):1611-1619. Epub 2017 Apr 21.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario.

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http://dx.doi.org/10.1002/ajmg.a.38231DOI Listing
June 2017

Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy.

Am J Hum Genet 2017 May 20;100(5):824-830. Epub 2017 Apr 20.

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada; Departments of Pediatrics and Neurosciences, Université de Montréal, Montreal, QC H3T 1J4, Canada.

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https://linkinghub.elsevier.com/retrieve/pii/S00029297173011
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http://dx.doi.org/10.1016/j.ajhg.2017.03.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420346PMC
May 2017

Two Novel Mutations in 2 Families With Benign Familial Neonatal Convulsions.

Child Neurol Open 2017 Jan-Dec;4:2329048X17691396. Epub 2017 Feb 23.

Division of Pediatric Neurology, Montreal Children's Hospital, McGill University Health Centre (MUHC), Montréal, Quebec City, Canada.

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http://dx.doi.org/10.1177/2329048X17691396DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417349PMC
February 2017

Child neurology: Andersen-Tawil syndrome.

Neurology 2015 Mar;84(11):e78-80

From the Division of Pediatric Neurology (M.A., M.S.), Montreal Children's Hospital-McGill University Health Center, Montreal, Canada; and Division of Pediatric Neurology (M.A.), King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1212/WNL.0000000000001377DOI Listing
March 2015

Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood.

Muscle Nerve 2014 Nov 16;50(5):775-9. Epub 2014 Sep 16.

Laboratory of Neurogenetics of Motion, Montreal Neurological Institute, McGill University, Montréal, Canada; Division of Pediatric Neurology, Montreal Children's Hospital-McGill University Health Center, Montréal, Canada.

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http://doi.wiley.com/10.1002/mus.24224
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http://dx.doi.org/10.1002/mus.24224DOI Listing
November 2014

Risk factors for intraventricular hemorrhage in term asphyxiated newborns treated with hypothermia.

Pediatr Neurol 2014 Jun 10;50(6):630-5. Epub 2014 Feb 10.

Division of Newborn Medicine, Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.01.054DOI Listing
June 2014

Genetics and the investigation of developmental delay/intellectual disability.

Arch Dis Child 2014 Apr 16;99(4):386-9. Epub 2013 Dec 16.

Division of Pediatric Neurology, Montreal Children's Hospital-McGill University Health Centre, , Montreal, Quebec, Canada.

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http://dx.doi.org/10.1136/archdischild-2013-304063DOI Listing
April 2014

De novo deletion of FMN2 in a girl with mild non-syndromic intellectual disability.

Eur J Med Genet 2013 Dec 24;56(12):686-8. Epub 2013 Oct 24.

Division of Pediatric Neurology, Montreal Children's Hospital, McGill University Health Center, Canada.

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http://dx.doi.org/10.1016/j.ejmg.2013.10.003DOI Listing
December 2013

Mutations in TMEM231 cause Joubert syndrome in French Canadians.

J Med Genet 2012 Oct 25;49(10):636-41. Epub 2012 Sep 25.

Centre of Excellence in Neurosciences of Université de Montréal and Sainte-Justine Hospital Research Center, Montreal, Quebec, Canada H3T 1C5.

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http://dx.doi.org/10.1136/jmedgenet-2012-101132DOI Listing
October 2012

Homozygous deletion of Tenascin-R in a patient with intellectual disability.

J Med Genet 2012 Jul 22;49(7):451-4. Epub 2012 Jun 22.

Division of Pediatric Neurology, Departments of Neurology/Neurosurgery, McGill University, Montreal Children’s Hospital-McGill University Health Center, Quebec, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2012-100831DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3395313PMC
July 2012

Neurophysiological investigation of congenital mirror movements in a patient with agenesis of the corpus callosum.

Brain Stimul 2012 Apr 23;5(2):137-40. Epub 2011 Mar 23.

Department of Psychology, University of Montreal, Montreal, Canada.

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http://dx.doi.org/10.1016/j.brs.2011.02.004DOI Listing
April 2012

The clinical spectrum of nodular heterotopias in children: report of 31 patients.

Epilepsia 2011 Apr 14;52(4):728-37. Epub 2011 Feb 14.

Centre de recherche du CHUM, Montréal, Université de Montréal, Quebec, Canada.

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http://dx.doi.org/10.1111/j.1528-1167.2010.02975.xDOI Listing
April 2011

DOK7 mutations presenting as a proximal myopathy in French Canadians.

Neuromuscul Disord 2010 Jul 17;20(7):453-7. Epub 2010 Jun 17.

Laboratoire de neurogénétique de la motricité, Centre de recherche du CHUM, Montréal, Université de Montréal, QC, Canada.

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http://dx.doi.org/10.1016/j.nmd.2010.05.007DOI Listing
July 2010

An instructive case of an 8-year-old boy with intellectual disability.

Semin Pediatr Neurol 2008 Dec;15(4):154-5; discussion 155-6

Department of Neurology/Neurosurgery, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.spen.2008.09.002DOI Listing
December 2008

Psychopharmacology of tic disorders.

J Can Acad Child Adolesc Psychiatry 2008 Aug;17(3):150-9

Unité des Troubles du mouvement, Centre Hospitalier de l'Université de Montréal, Montréal, Québec.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2527768PMC
August 2008

Analysis of clinical features predicting etiologic yield in the assessment of global developmental delay.

Pediatrics 2006 Jul;118(1):139-45

Division of Pediatric Neurology, Montreal Children's Hospital-McGill University Health Center, Department of Neurology/Neurosurgery, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1542/peds.2005-2702DOI Listing
July 2006

Diagnosing Sotos syndrome in the setting of global developmental delay and macrocephaly.

J Child Neurol 2006 Apr;21(4):287-90

Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.

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http://journals.sagepub.com/doi/10.1177/08830738060210042201
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http://dx.doi.org/10.1177/08830738060210042201DOI Listing
April 2006