Cyrus Boelman

Cyrus Boelman

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Cyrus Boelman

Cyrus Boelman

Publications by authors named "Cyrus Boelman"

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Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations.

BMC Med Genet 2019 05 31;20(1):95. Epub 2019 May 31.

Division of Neurology, BC Children's Hospital, Vancouver, Canada.

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http://dx.doi.org/10.1186/s12881-019-0827-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6545025PMC
May 2019

mTOR Inhibitors as a New Therapeutic Strategy in Treatment Resistant Epilepsy in Hemimegalencephaly: A Case Report.

J Child Neurol 2019 Mar 5;34(3):132-138. Epub 2018 Dec 5.

1 Division of Neurology, University of British Columbia, BC Children's Hospital, Vancouver, BC, Canada.

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http://dx.doi.org/10.1177/0883073818813238DOI Listing
March 2019

EEG of asymptomatic first-degree relatives of patients with juvenile myoclonic, childhood absence and rolandic epilepsy: a systematic review and meta-analysis.

Epileptic Disord 2019 Feb;21(1):30-41

Program in Genetics and Genome Biology, The Hospital for Sick Children, Institute of Medical Science, University of Toronto, Toronto, Division of Neurology, Department of Pediatrics, University of Texas Southwestern, Dallas, USA.

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http://dx.doi.org/10.1684/epd.2019.1024DOI Listing
February 2019

Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype.

Neuroscience 2018 08 29;384:152-164. Epub 2018 May 29.

Division of Biochemical Diseases, Department of Pediatrics, B.C. Children's Hospital, University of British Columbia, Vancouver, Canada; BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada; Department of Pediatrics and Clinical Genetics, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S03064522183038
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http://dx.doi.org/10.1016/j.neuroscience.2018.05.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679957PMC
August 2018

A Surprising Cause of Epilepsy: Whole Exome Sequencing in a Child With Focal Cortical Dysplasia Identifies Neurofibromatosis Type 2.

Pediatr Neurol 2018 08 4;85:79-81. Epub 2018 Jun 4.

Department of Radiology, Neurology, BC Children's Hospital, University of British Columbia, Vancouver, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.05.006DOI Listing
August 2018

Germline and somatic mutations in with diverse neurodevelopmental phenotypes.

Neurol Genet 2017 Dec 18;3(6):e199. Epub 2017 Dec 18.

Mohammed Bin Rashid University of Medicine and Health Sciences (M.U.), Dubai, UAE; The Centre for Applied Genomics (M.U., M.W.), Program in Genetics and Genome Biology (GGB) (A.C., L.B., S.L., G.P., R.K.C.Y., M.F., A.S., B.A.M., S.W.S.), Genome Diagnostics (D.J.S., C.R.M.), Paediatric Laboratory Medicine, Division of Neurosurgery (J.D., B.A.M.), and Division of Neurology (C.D.H.), The Hospital for Sick Children, Toronto, Ontario, Canada; Institute of Neuroscience (M.W.), Newcastle University, UK; Department of Molecular Genetics (A.C., S.W.S.), Department of Paediatrics (C.D.H., C.H.), and McLaughlin Centre (S.W.S.), University of Toronto, Ontario, Canada; Discipline of Genetics (L.A.T.), Faculty of Medicine, Memorial University of Newfoundland, St. John's, Canada; and Division of Neurology (C.B.), BC Children's Hospital, Vancouver, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735305PMC
December 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

Clinical Experience With Perampanel for Refractory Pediatric Epilepsy in One Canadian Center.

J Child Neurol 2017 08 16;32(9):834-839. Epub 2017 May 16.

Department of Pediatrics, Division of Neurology, BC Children's Hospital, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1177/0883073817709195DOI Listing
August 2017

Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes.

Pediatr Neurol 2014 Dec 29;51(6):850-3. Epub 2014 Aug 29.

Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.08.015DOI Listing
December 2014

Antithrombotic therapy for secondary stroke prevention in bacterial meningitis in children.

J Pediatr 2014 Oct 22;165(4):799-806. Epub 2014 Jul 22.

Division of Neurology, Hospital for Sick Children, Toronto, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2014.06.013DOI Listing
October 2014

Preictal surrender of post-spike slow waves to spike-related high-frequency oscillations (80-200 Hz) is associated with seizure initiation.

Epilepsia 2014 Sep 28;55(9):1399-405. Epub 2014 Jul 28.

Division of Neurology, Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1111/epi.12728DOI Listing
September 2014

Statistical mapping analysis of lesion location and neurological disability in multiple sclerosis: application to 452 patient data sets.

Neuroimage 2003 Jul;19(3):532-44

McConnell Brain Imaging Centre, Montreal Neurological Institute, McGill University, Montréal, Canada.

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July 2003