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Neurosciences

We have an active program of clinical research for children and youth with disorders of the nervous system.

The Neurosciences Program works in the areas of neurology, neurosurgery, neuromuscular disease, and neuro-oncology. We have a vision to be a national and international leader in providing care for children and youth with neurological disorders, conducting research, applying technology to improve patient care, obtaining superior clinical outcomes and sharing information through peer reviewed publications and educational programs.

Our Team

Our team is devoted to improving the neurological health of children and youth in B.C. through research to help significantly improve patient outcomes.

Research Director: ‎Dr. Vesna Popovska

Alexander Cheong

Daniel Kim

Danielle Hartley

Inderpal Gill

Mihaela Anghelina

Nela Martic

Sanja Hadzi-Nikolova

Stephanie Kwok

 

Studies

The Neurosciences Program conducts ongoing prospective and retrospective research studies in 5 main categories: 
  1. Epilepsy
  2. Brain Injuries/Inflammation
  3. Developmental Malformation/Neuromuscular Diseases
  4. Neuro-oncology
  5. Neurosurgery
Please contact our study team for more information about our research studies and to learn how you can be involved!
Publications

Publications from Our Team

Position Statement on the Use of Medical Cannabis for the Treatment of Epilepsy in Canada
Canadian Journal of Neurological Sciences
Juan Pablo Appendino, Cyrus Boelman, Paula M Brna, Jorge G Burneo, Curtis S Claassen, Mary B Connolly, Michael V T De Guzman, Paolo Federico, Deirdre Floyd, Richard James Huntsman, Manouchehr Javidan, Nathalie Jette, Laura L Jurasek, Mark R Keezer, Jonathan C Lau, Bláthnaid McCoy, Richard S McLachlan, Marcus C Ng, Dang Khoa Nguyen, Aylin Y Reid, Jong M Rho, O Carter Snead, José F Téllez-Zenteno, Laura Wang, Maria Martha Zak 
PMID: 31466531
2019

Case Reports: Novel TUBG1 Mutations With Milder Neurodevelopmental Presentations
BMC Medical Genetics
Yue T K Yuen, Ilaria Guella, Elke Roland, Michael Sargent, Cyrus Boelman
PMID: 31151415
2019

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy
Frontiers in Neurology
Michelle Demos, Ilaria Guella, Conrado DeGuzman, Marna B McKenzie, Sarah E Buerki, Daniel M Evans, Eric B Toyota, Cyrus Boelman, Linda L Huh, Anita Datta, Aspasia Michoulas, Kathryn Selby, Bruce H Bjornson, Gabriella Horvath, Elena Lopez-Rangel, Clara D M van Karnebeek, Ramona Salvarinova, Erin Slade, Patrice Eydoux, Shelin Adam, Margot I Van Allen, Tanya N Nelson, Corneliu Bolbocean, Mary B Connolly, Matthew J Farrer
PMID: 31164858
2019

EEG of Asymptomatic First-Degree Relatives of Patients With Juvenile Myoclonic, Childhood Absence and Rolandic Epilepsy: A Systematic Review and Meta-Analysis
Epileptic Disorders: International Epilepsy Journal with Videotape
Mariam Tashkandi, Duaa Baarma, Andrea C Tricco, Cyrus Boelman, Reem Alkhater, Berge A Minassian
DOI: 10.1684/epd.2019.1024
PMID: 30767897
2019

mTOR Inhibitors as a New Therapeutic Strategy in Treatment Resistant Epilepsy in Hemimegalencephaly: A Case Report
Journal of Child Neurology
Qi Xu, Shimrit Uliel-Sibony, Christopher Dunham, Harvey Sarnat, Laura Flores-Sarnat, Ledia Brunga, Scott Davidson, Winnie Lo, Adam Shlien, Mary Connolly, Cyrus Boelman, Anita Datta
PMID: 30514132
2019

A Surprising Cause of Epilepsy: Whole Exome Sequencing in a Child With Focal Cortical Dysplasia Identifies Neurofibromatosis Type 2
Pediatric Neurology
Katherine E Muir, Michael Sargent, Cyrus Boelman
PMID: 30122282
2018

Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype
Neuroscience
Gabriella A Horvath, Yulin Zhao, Maja Tarailo-Graovac, Cyrus Boelman, Harinder Gill, Casper Shyr, James Lee, Ingrid Blydt-Hansen, Britt I Drögemöller, Jacqueline Moreland, Colin J Ross, Wyeth W Wasserman, Andrea Masotti, Paul A Slesinger, Clara D M van Karnebeek
PMID: 29852244
2018

Global Characterization of Copy Number Variants in Epilepsy Patients From Whole Genome Sequencing
PLoS Genetics
Jean Monlong, Simon L Girard, Caroline Meloche, Maxime Cadieux-Dion, Danielle M Andrade, Ron G Lafreniere, Micheline Gravel, Dan Spiegelman, Alexandre Dionne-Laporte, Cyrus Boelman, Fadi F Hamdan, Jacques L Michaud, Guy Rouleau, Berge A Minassian, Guillaume Bourque, Patrick Cossette
PMID: 29649218
2018

Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots
G3 (Bethesda)
Mohammed Uddin, Marc Woodbury-Smith, Ada J S Chan, Ammar Albanna, Berge Minassian, Cyrus Boelman, Stephen W Scherer
PMID: 29438995
2018

Improved Diagnostic Yield Compared With Targeted Gene Sequencing Panels Suggests a Role for Whole-Genome Sequencing as a First-Tier Genetic Test
Genetics in Medicine
Anath C Lionel, Gregory Costain, Nasim Monfared, Susan Walker, Miriam S Reuter, S Mohsen Hosseini, Bhooma Thiruvahindrapuram, Daniele Merico, Rebekah Jobling, Thomas Nalpathamkalam, Giovanna Pellecchia, Wilson W L Sung, Zhuozhi Wang, Peter Bikangaga, Cyrus Boelman, Melissa T Carter, Dawn Cordeiro, Cheryl Cytrynbaum, Sharon D Dell, Priya Dhir, James J Dowling, Elise Heo, Stacy Hewson, Linda Hiraki, Michal Inbar-Feigenberg, Regan Klatt, Jonathan Kronick, Ronald M Laxer, Christoph Licht, Heather MacDonald, Saadet Mercimek-Andrews, Roberto Mendoza-Londono, Tino Piscione, Rayfel Schneider, Andreas Schulze, Earl Silverman, Komudi Siriwardena, O Carter Snead, Neal Sondheimer, Joanne Sutherland, Ajoy Vincent, Jonathan D Wasserman, Rosanna Weksberg, Cheryl Shuman, Chris Carew, Michael J Szego, Robin Z Hayeems, Raveen Basran, Dimitri J Stavropoulos, Peter N Ray, Sarah Bowdin, M Stephen Meyn, Ronald D Cohn, Stephen W Scherer, Christian R Marshall
DOI: 10.1038/gim.2017.119
PMID: 28771251
2018

Germline and Somatic Mutations in STXBP1 With Diverse Neurodevelopmental Phenotypes
Neurology Genetics
Mohammed Uddin, Marc Woodbury-Smith, Ada Chan, Ledia Brunga, Sylvia Lamoureux, Giovanna Pellecchia, Ryan K C Yuen, Muhammad Faheem, Dimitri J Stavropoulos, James Drake, Cecil D Hahn, Cynthia Hawkins, Adam Shlien, Christian R Marshall, Lesley A Turner, Berge A Minassian, Stephen W Scherer, Cyrus Boelman
PMID: 29264391
2017

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
American Journal of Human Genetics
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, Deciphering Developmental Disorders Study; 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
PMID: 29100083
2017

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy
American Journal of Human Genetics
Ilaria Guella, Marna B McKenzie, Daniel M Evans, Sarah E Buerki, Eric B Toyota, Margot I Van Allen, Epilepsy Genomics Study (Collaborator: Cyrus Boelman); Mohnish Suri, Frances Elmslie, Deciphering Developmental Disorders Study; Marleen E H Simon, Koen L I van Gassen, Delphine Héron, Boris Keren, Caroline Nava, Mary B Connolly, Michelle Demos, Matthew J Farrer
PMID: 28777935
2017

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
American Journal of Human Genetics
Anna Lehman, Samrat Thouta, Grazia M S Mancini, Sakkubai Naidu, Marjon van Slegtenhorst, Kirsty McWalter, Richard Person, Jill Mwenifumbo, Ramona Salvarinova, CAUSES Study; EPGEN Study (Collaborator: Cyrus Boelman); Ilaria Guella, Marna B McKenzie, Anita Datta, Mary B Connolly, Somayeh Mojard Kalkhoran, Damon Poburko, Jan M Friedman, Matthew J Farrer, Michelle Demos, Sonal Desai, Thomas Claydon
PMID: 28669405
2017

Clinical Experience With Perampanel for Refractory Pediatric Epilepsy in One Canadian Center
Journal of Child Neurology
Anita N Datta, Qi Xu, Shafina Sachedina, Cyrus Boelman, Linda Huh, Mary B Connolly
PMID: 28511603
2017

Increased Subcortical Oligodendroglia-Like Cells in Pharmacoresistant Focal Epilepsy in Children Correlate With Extensive Epileptogenic Zones
Epilepsia
Satoru Sakuma, William C Halliday, Ruka Nomura, Shiro Baba, Yosuke Sato, Kazuo Okanari, Midori Nakajima, Elysa Widjaja, Cyrus Boelman, Ayako Ochi, O Carter Snead 3rd, James T Rutka, James Drake, Steven Miller, Hiroshi Otsubo
PMID: 27859041
2016

Faulty Cardiac Repolarization Reserve in Alternating Hemiplegia of Childhood Broadens the Phenotype
Brain
Fatima Jaffer, Andreja Avbersek, Rosaria Vavassori, Carmen Fons, Jaume Campistol, Michela Stagnaro, Elisa De Grandis, Edvige Veneselli, Hendrik Rosewich, Melania Gianotta, Claudio Zucca, Francesca Ragona, Tiziana Granata, Nardo Nardocci, Mohamed Mikati, Ashley R Helseth, Cyrus Boelman, Berge A Minassian, Sophia Johns, Sarah I Garry, Ingrid E Scheffer, Isabelle Gourfinkel-An, Ines Carrilho, Sarah E Aylett, Matthew Parton, Michael G Hanna, Henry Houlden, Brian Neville, Manju A Kurian, Jan Novy, Josemir W Sander, Pier D Lambiase, Elijah R Behr, Tsveta Schyns, Alexis Arzimanoglou, J Helen Cross, Juan P Kaski, Sanjay M Sisodiya
DOI: 10.1093/brain/awv243
PMID: 26297560
2015

Spatial Relationship Between Fast and Slow Components of Ictal Activities and Interictal Epileptiform Discharges in Epileptic Spasms
Clinical Neurophysiology
Tomoyuki Akiyama, Mari Akiyama, Katsuhiro Kobayashi, Tohru Okanishi, Cyrus G Boelman, Dragos A Nita, Ayako Ochi, Cristina Y Go, O Carter Snead 3rd, James T Rutka, James M Drake, Sylvester Chuang, Hiroshi Otsubo
PMID: 25557960
2015

Interictal High Frequency Oscillations Correlating With Seizure Outcome in Patients With Widespread Epileptic Networks in Tuberous Sclerosis Complex
Epilepsia
Tohru Okanishi, Tomoyuki Akiyama, Shin-Ichi Tanaka, Ellen Mayo, Ayu Mitsutake, Cyrus Boelman, Cristina Go, O Carter Snead 3rd, James Drake, James Rutka, Ayako Ochi, Hiroshi Otsubo
PMID: 25196064
2014

Identical ATP1A3 Mutation Causes Alternating Hemiplegia of Childhood and Rapid-Onset Dystonia Parkinsonism Phenotypes
Pediatric Neurology
Cyrus Boelman, Ana Marissa Lagman-Bartolome, Daune L MacGregor, Jane McCabe, Willam J Logan, Berge A Minassian
PMID: 25439493
2014

Preictal Surrender of Post-Spike Slow Waves to Spike-Related High-Frequency Oscillations (80-200 Hz) Is Associated With Seizure Initiation
Epilepsia
Yosuke Sato, Sam M Doesburg, Simeon M Wong, Cyrus Boelman, Ayako Ochi, Hiroshi Otsubo
PMID: 25070562
2014

Antithrombotic Therapy for Secondary Stroke Prevention in Bacterial Meningitis in Children
Journal of Pediatrics
Cyrus Boelman, Manohar Shroff, Ivanna Yau, Bruce Bjornson, Susan Richrdson, Gabrielle deVeber, Daune MacGregor, Mahendranathn Moharir, Rand Askalan
PMID: 25063717
2014

Letter to the Editor [WriteClick: Editor's Choice] re: "Adjunctive Dexamethasone in Adults with Meningococcal Meningitis"
Neurology
Cyrus G. Boelman, Matthijs C. Brouwer, Diederik van de Beek
2013

Focal Transmantle Cortical Dysplasia
European Society of Radiology
C Boelman, T Persaud, M King, S Ryan
2008

Statistical Mapping Analysis of Lesion Location and Neurological Disability in Multiple Sclerosis: Application to 452 Patient Data Sets
NeuroImage
Arnaud Charil, Alex P Zijdenbos, Jonathan Taylor, Cyrus Boelman, Keith J Worsley, Alan C Evans, Alain Dagher
PMID: 12880785
2003

Childhood Small Vessel Primary Angiitis of the Central Nervous System: A Treatable Cause of Super-refractory Status Epilepticus
Journal of Child Neurology
Michelle Chiu, Anita Datta
PMID: 31530228
2020

Two Patients With KCNT1-Related Epilepsy Responding to Phenobarbital and Potassium Bromide
Journal of Child Neurology
Anita N Datta, Aspasia Michoulas, Ilaria Guella, EPGEN Study; Michelle Demos
PMID: 31208268
2019

Clinical Significance of Incidental Rolandic Spikes in Children With Absence Epilepsy
Journal of Child Neurology
Anita N Datta, Laura Wallbank, Jeremy C H Mak, Peter K H Wong
PMID: 31113278
2019

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy
Frontiers in Neurology
Michelle Demos, Ilaria Guella, Conrado DeGuzman, Marna B McKenzie, Sarah E Buerki, Daniel M Evans, Eric B Toyota, Cyrus Boelman, Linda L Huh, Anita Datta, Aspasia Michoulas, Kathryn Selby, Bruce H Bjornson, Gabriella Horvath, Elena Lopez-Rangel, Clara D M van Karnebeek, Ramona Salvarinova, Erin Slade, Patrice Eydoux, Shelin Adam, Margot I Van Allen, Tanya N Nelson, Corneliu Bolbocean, Mary B Connolly, Matthew J Farrer
PMID: 31164858
2019

Co-existence of Rolandic and 3 Hz Spike-Wave Discharges on EEG in Children With Epilepsy
Canadian Journal of Neurological Sciences
Anita N Datta, Laura Wallbank, Peter K H Wong
PMID: 30507368
2019

mTOR Inhibitors as a New Therapeutic Strategy in Treatment Resistant Epilepsy in Hemimegalencephaly: A Case Report
Journal of Child Neurology
Qi Xu, Shimrit Uliel-Sibony, Christopher Dunham, Harvey Sarnat, Laura Flores-Sarnat, Ledia Brunga, Scott Davidson, Winnie Lo, Adam Shlien, Mary Connolly, Cyrus Boelman, Anita Datta
PMID: 30514132
2019

Predictive Value of Midline Spikes on Pediatric EEG for Seizure and Developmental Outcome
Journal of Clinical Neurophysiology
Anita N Datta, Laura Wallbank, Qi Xu, Peter K H Wong
PMID: 30247384
2018

Lack of Response to Quinidine in KCNT1-related Neonatal Epilepsy
Epilepsia
Adam L Numis, Umesh Nair, Anita N Datta, Tristan T Sands, Michael S Oldham, Akash Patel, Melody Li, Elena Gazina, Steven Petrou, Maria Roberta Cilio
PMID: 30182418
2018

An Infant With Epilepsy and Recurrent Hemiplegia Due to Compound Heterozygous Variants in ATP1A2
Pediatric Neurology
Colin Wilbur, Sarah E Buerki, Ilaria Guella, Eric B Toyota, Daniel M Evans, Marna B McKenzie, Anita Datta, Aspasia Michoulas, Shelin Adam, Margot I Van Allen, Tanya N Nelson, Matthew J Farrer, Mary B Connolly, Michelle Demos 
PMID: 28811059
2017

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
American Journal of Human Genetics
Anna Lehman, Samrat Thouta, Grazia M S Mancini, Sakkubai Naidu, Marjon van Slegtenhorst, Kirsty McWalter, Richard Person, Jill Mwenifumbo, Ramona Salvarinova, CAUSES Study; EPGEN Study; Ilaria Guella, Marna B McKenzie, Anita Datta, Mary B Connolly, Somayeh Mojard Kalkhoran, Damon Poburko, Jan M Friedman, Matthew J Farrer, Michelle Demos, Sonal Desai, Thomas Claydon
PMID: 28669405
2017

Case Report: QARS Deficiency and Favorable Outcome Following Treatment of Seizures With Ketogenic Diet
Journal of Child Neurology
Anita Datta, Alex Ferguson, Chris Simonson, Francesca Zannotto, Aspasia Michoulas, Elke Roland, Clara van Karnebeek, Ramona Salvarinova
PMID: 28056632
2017

Manifestations of Tuberous Sclerosis Complex: The Experience of a Provincial Clinic
Canadian Journal of Neurological Sciences
Colin Wilbur, Chinnuwat Sanguansermsri, Hedi Chable, Mihaela Anghelina, Sharon Peinhof, Kelly Anderson, Paul Steinbok, Ash Singhal, Anita Datta, Mary B Connolly
PMID: 28004629
2017

Clinical Experience With Perampanel for Refractory Pediatric Epilepsy in One Canadian Center
Journal of Child Neurology
Anita N Datta, Qi Xu, Shafina Sachedina, Cyrus Boelman, Linda Huh, Mary B Connolly
PMID: 28511603
2017

Predictors of IQ after Pediatric Epilepsy Surgery
Scientific Times Journal of Paediatrics
Anita Datta, Peter K H Wong
2017

DRESS and PRES in a Patient with Epilepsy: Unexpected COnsequences of Adding Lamotrigine
Scientific Times Journal of Paediatrics
Anita Datta, Peter K H Wong
2016

Care of Children with Epilepsy at BC Children's Hospital
The Official Journal of the Hong Kong Society of Child Neurology and Developmental Paediatrics
Anita Datta
2016

Electroencephalography in the Pediatric Emergency Department: When Is It Most Useful?
Journal of Child Neurology
Iván Sánchez Fernández, Tobias Loddenkemper, Anita Datta, Sanjeev Kothare, James J Riviello Jr, Alexander Rotenberg
PMID: 23594820
2014

Discontinuation of Antiepileptic Drugs After Successful Epilepsy Surgery. A Canadian Survey
Epilepsy Research
José F Téllez-Zenteno, Lizbeth Hernández Ronquillo, Nathalie Jette, Jorge G Burneo, Dang Khoa Nguyen, Elizabeth J Donner, Mark Sadler, Mano Javidan M, Donald W Gross, Samuel Wiebe, Canadian Epilepsy Surgery Study Group (Collaborator: Anita Datta)
PMID: 22595484
2012

Tuberous Sclerosis Complex: From Basic Science to Clinical Phenotypes. 2003. Edited by Paolo Curatolo. Published by Mac Keith Press. 314 pages. C$112 approx.
Canadian Journal of Neurological Sciences
Anita Datta
2016

Intelligence Quotient Is Not Affected by Epilepsy Surgery in Childhood
Pediatric Neurology
Anita N Datta, Thomas J Snyder, Matt B Wheatley, Laura Jurasek, Nizam S Ahmed, Donald W Gross, D Barry Sinclair
PMID: 21215911
2011

Trisomy 8 Mosaicism and Favorable Outcome After Treatment of Infantile Spasms: Case Report
Journal of Child Neurology
Anita Datta, Jonathan Picker, Alexander Rotenberg
PMID: 20489041
2010

Selective Amygdalohippocampectomy: Surgical Outcome in Children Versus Adults
Canadian Journal of Neurological Sciences
Anita N Datta, D. Barry Sinclair, Matt Wheatley, Laura Jurasek, Thomas Snyder, Daphne Quigley, Syed Nizamuddin Ahmed, Daniel Gross
PMID: 19378712
2009

Clinical Presentation and Diagnosis of Tuberous Sclerosis Complex in Infancy
Journal of Child Neurology
Anita N Datta, Cecil D Hahn, Mustafa Sahin
PMID: 18230839
2008

A First Stage Genome-Wide Screen for Regions Shared Identical-By-Descent in Hutterite Families With Multiple Sclerosis
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
David Alexandre Dyment, M Zameel Cader, Anita Datta, S John Broxholme, Stacey S Cherny, Cristen J Willer, Sreeram Ramagopalan, Blanca M Herrera, Sarah Orton, Michael Chao, A Dessa Sadovnick, Mary Hader, Walter Hader, George C Ebers
PMID: 18081025
2008

Discontinuation of Antiepileptic Drugs After Pediatric Epilepsy Surgery
Pediatric Neurology
D Barry Sinclair, Laura Jurasek, Matt Wheatley, Anita Datta, Donald Gross, Nizam Ahmed, Daphne Quigley, Thomas Snyder, Keith Aronyk, John McKean
DOI: 10.1016/j.pediatrneurol.2007.05.004
PMID: 17765808
2007

Benign Epilepsy of Childhood With Rolandic Spikes: Typical and Atypical Variants
Pediatric Neurology
Anita Datta, D Barry Sinclair
PMID: 17352945
2007

Prognosis of Seizures Occurring in the First Year of Life
Pediatric Neurology
Anita N Datta, Elaine C Wirrell
PMID: 10913731
2000
SETD1B-associated Neurodevelopmental Disorder
Journal of Medical Genetics
Alexandra Roston, Dan Evans, Harinder Gill, Margaret McKinnon, Bertrand Isidor, Benjamin Cogné, Jill Mwenifumbo, Clara van Karnebeek, Jianghong An, Steven J M Jones, Matthew Farrer, Michelle Demos, Mary Connolly, William T Gibson, CAUSES Study; EPGEN Study
DOI: 10.1136/jmedgenet-2019-106756
PMID: 32546566
2020

Correction To: Pathophysiology of and Therapeutic Options for a GABRA1 Variant Linked to Epileptic Encephalopathy
Molecular Brain
Yun-Fei Bai, Michelle Chiu, Elizabeth S Chan, Peter Axerio-Cilies, Jie Lu, Linda Huh, Mary B Connolly, Ilaria Guella, Matthew J Farrer, Zhi-Qing David Xu, Lidong Liu, Michelle Demos, Yu Tian Wang
PMID: 32220239
2020

Pathophysiology of and Therapeutic Options for a GABRA1 Variant Linked to Epileptic Encephalopathy
Molecular Brain
Yun-Fei Bai, Michelle Chiu, Elizabeth S Chan, Peter Axerio-Cilies, Jie Lu, Linda Huh, Mary B Connolly, Ilaria Guella, Matthew J Farrer, Zhi-Qing David Xu, Lidong Liu, Michelle Demos, Yu Tian Wang
DOI: 10.1186/s13041-019-0513-9
PMID: 31707987
2019

Two Patients With KCNT1-Related Epilepsy Responding to Phenobarbital and Potassium Bromide
Journal of Child Neurology
Anita N Datta, Aspasia Michoulas, Ilaria Guella, EPGEN Study; Michelle Demos 
PMID: 31208268
2019

Atypical Cerebral Palsy: Genomics Analysis Enables Precision Medicine
Genetics in Medicine
Allison M Matthews, Ingrid Blydt-Hansen, Basmah Al-Jabri, John Andersen, Maja Tarailo-Graovac, Magda Price, Katherine Selby, Michelle Demos, Mary Connolly, Britt Drögemoller, Casper Shyr, Jill Mwenifumbo, Alison M Elliott, Jessica Lee, Aisha Ghani, Sylvia Stöckler, Ramona Salvarinova, Hilary Vallance, Graham Sinclair, Colin J Ross, Wyeth W Wasserman, Margaret L McKinnon, Gabriella A Horvath, Helly Goez, Clara D van Karnebeek, TIDE BC, United for Metabolic Diseases and the CAUSES Study
2019

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy
Frontiers in Neurology
Michelle Demos, Ilaria Guella, Conrado DeGuzman, Marna B McKenzie, Sarah E Buerki, Daniel M Evans, Eric B Toyota, Cyrus Boelman, Linda L Huh, Anita Datta, Aspasia Michoulas, Kathryn Selby, Bruce H Bjornson, Gabriella Horvath, Elena Lopez-Rangel, Clara D M van Karnebeek, Ramona Salvarinova, Erin Slade, Patrice Eydoux, Shelin Adam, Margot I Van Allen, Tanya N Nelson, Corneliu Bolbocean, Mary B Connolly, Matthew J Farrer
PMID: 31164858
2019

Clinical, Neuroradiological, and Biochemical Features of SLC35A2-CDG Patients
Journal of Inherited Metabolic Disease
Mari-Anne Vals, Angel Ashikov, Pilvi Ilves, Dagmar Loorits, Qiang Zeng, Rita Barone, Karin Huijben, Jolanta Sykut-Cegielska, Luísa Diogo, Abdallah F Elias, Robert S Greenwood, Stephanie Grunewald, Peter M van Hasselt, Jiddeke M van de Kamp, Grazia Mancini, Agnieszka Okninska, Sander Pajusalu, Pauline M Rudd, Cecilie F Rustad, Ramona Salvarinova, Bert B A de Vries, Nicole I Wolf, EPGEN Study (Collaborator: Michelle Demos); Bobby G Ng, Hudson H Freeze, Dirk J Lefeber, Katrin Õunap
DOI: 10.1002/jimd.12055
PMID: 30746764
2019

Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions
Journal of Genetic Counseling
Shelin Adam, Patricia H Birch, Rachel R Coe, Nick Bansback, Adrian L Jones, Mary B Connolly, Michelle K Demos, Eric B Toyota, Matthew J Farrer, Jan M Friedman
PMID: 30033481
2018

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
American Journal of Human Genetics
Víctor Faundes, William G Newman, Laura Bernardini, Natalie Canham, Jill Clayton-Smith, Bruno Dallapiccola, Sally J Davies, Michelle K Demos, Amy Goldman, Harinder Gill, Rachel Horton, Bronwyn Kerr, Dhavendra Kumar, Anna Lehman, Shane McKee, Jenny Morton, Michael J Parker, Julia Rankin, Lisa Robertson, I Karen Temple, Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study; Deciphering Developmental Disorders (DDD) Study; Siddharth Banka
PMID: 29276005
2018

An Infant With Epilepsy and Recurrent Hemiplegia Due to Compound Heterozygous Variants in ATP1A2
Pediatric Neurology
Colin Wilbur, Sarah E Buerki, Ilaria Guella, Eric B Toyota, Daniel M Evans, Marna B McKenzie, Anita Datta, Aspasia Michoulas, Shelin Adam, Margot I Van Allen, Tanya N Nelson, Matthew J Farrer, Mary B Connolly, Michelle Demos
PMID: 28811059
2017

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy
American Journal of Human Genetics
Ilaria Guella, Marna B McKenzie, Daniel M Evans, Sarah E Buerki, Eric B Toyota, Margot I Van Allen, Epilepsy Genomics Study; Mohnish Suri, Frances Elmslie, Deciphering Developmental Disorders Study; Marleen E H Simon, Koen L I van Gassen, Delphine Héron, Boris Keren, Caroline Nava, Mary B Connolly, Michelle Demos, Matthew J Farrer
2017

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
American Journal of Human Genetics
Anna Lehman, Samrat Thouta, Grazia M S Mancini, Sakkubai Naidu, Marjon van Slegtenhorst, Kirsty McWalter, Richard Person, Jill Mwenifumbo, Ramona Salvarinova, CAUSES Study; EPGEN Study; Ilaria Guella, Marna B McKenzie, Anita Datta, Mary B Connolly, Somayeh Mojard Kalkhoran, Damon Poburko, Jan M Friedman, Matthew J Farrer, Michelle Demos, Sonal Desai, Thomas Claydon 
2017

De Novo FGF12 Mutation in 2 Patients With Neonatal-Onset Epilepsy
Neurology Genetics
Ilaria Guella, Linda Huh, Marna B McKenzie, Eric B Toyota, E Martina Bebin, Michelle L Thompson, Gregory M Cooper, Daniel M Evans, Sarah E Buerki, Shelin Adam, Margot I Van Allen, Tanya N Nelson, Mary B Connolly, Matthew J Farrer, Michelle Demos 
2016

Exome Sequencing and the Management of Neurometabolic Disorders
New England Journal of Medicine
Maja Tarailo-Graovac, Casper Shyr, Colin J. Ross, Gabriella A. Horvath, Ramona Salvarinova, Xin C. Ye, Lin-Hua Zhang, Amit P. Bhavsar, Jessica J.Y. Lee, Britt I. Drögemöller, Mena Abdelsayed, Majid Alfadhel, Linlea Armstrong, Matthias R. Baumgartner, Patricie Burda, Mary B. Connolly, Jessie Cameron, Michelle Demos, Tammie Dewan, Janis Dionne, A. Mark Evans, Jan M. Friedman, Ian Garber, Suzanne Lewis, Jiqiang Ling, Rupasri Mandal, Andre Mattman, Margaret McKinnon, Aspasia Michoulas, Daniel Metzger, Oluseye A. Ogunbayo, Bojana Rakic, Jacob Rozmus, Peter Ruben, Bryan Sayson, Saikat Santra, Kirk R. Schultz, Kathryn Selby, Paul Shekel, Sandra Sirrs, Cristina Skrypnyk, Andrea Superti-Furga, Stuart E. Turvey, Margot I. Van Allen, David Wishart, Jiang Wu, John Wu, Dimitrios Zafeiriou, Leo Kluijtmans, Ron A. Wevers, Patrice Eydoux, Anna M. Lehman, Hilary Vallance, Sylvia Stockler-Ipsiroglu, Graham Sinclair, Wyeth W. Wasserman, Clara D. van Karnebeek
Secondary Neurotransmitter Deficiencies in Epilepsy Caused by Voltage-Gated Sodium Channelopathies: A Potential Treatment Target?
Molecular Genetics and Metabolism
Gabriella A Horvath, Michelle Demos, Casper Shyr, Allison Matthews, Linhua Zhang, Simone Race, Sylvia Stockler-Ipsiroglu, Margot I Van Allen, Ogan Mancarci, Lilah Toker, Paul Pavlidis, Colin J Ross, Wyeth W Wasserman, Natalie Trump, Simon Heales, Simon Pope, J Helen Cross, Clara D M van Karnebeek
PMID: 26647175
2016

Does Treatment Have an Impact on Incidence and Risk Factors for Autism Spectrum Disorders in Children With Infantile Spasms?
Epilepsia
Jonathan Y Bitton, Michelle Demos, Katia Elkouby, Mary Connolly, Shelly K Weiss, Elizabeth J Donner, Sharon Whiting, Gabriel M Ronen, Luis Bello-Espinosa, Elaine C Wirrell, Ismail S Mohamed, Joseph M Dooley, Lionel Carmant
DOI: 10.1111/epi.12997
PMID: 25944453
2015

Clinical Spectrum of 4H Leukodystrophy Caused by POLR3A and POLR3B Mutations
Neurology
Nicole I Wolf, Adeline Vanderver, Rosalina M L van Spaendonk, Raphael Schiffmann, Bernard Brais, Marianna Bugiani, Erik Sistermans, Coriene Catsman-Berrevoets, Johan M Kros, Pedro Soares Pinto, Daniela Pohl, Sandya Tirupathi, Petter Strømme, Ton de Grauw, Sébastien Fribourg, Michelle Demos, Amy Pizzino, Sakkubai Naidu, Kether Guerrero, Marjo S van der Knaap, Geneviève Bernard, 4H Research Group
2014

Desmosterolosis: An Illustration of Diagnostic Ambiguity of Cholesterol Synthesis Disorders
Orphanet Journal of Rare Diseases
Cristina Dias, Rosemarie Rupps, Benjamin Millar, Kunho Choi, Marco Marra, Michelle Demos, Lisa E Kratz, Cornelius F Boerkoel
PMID: 24961299
2014

Recurrent Subacute Post-Viral Onset of Ataxia Associated With a PRF1 Mutation
European Journal of Human Genetics
Cristina Dias, Allison McDonald, Murat Sincan, Rosemarie Rupps, Thomas Markello, Ramona Salvarinova, Rui F Santos, Kamal Menghrajani, Chidi Ahaghotu, Darren P Sutherland, Edgardo S Fortuno 3rd, Tobias R Kollmann, Michelle Demos, Jan M Friedman, David P Speert, William A Gahl, Cornelius F Boerkoel
PMID: 23443029
2013

Absent Cavum With Intact Septum Pellucidum and Corpus Callosum May Indicate Midline Brain Abnormalities
Ultrasound in Obstetrics & Gynecology
D Pugash, S Langlois, P Power, M Demos
PMID: 23460194
2013

Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome
American Journal of Medical Genetics
Keith W McLarren, Tesa M Severson, Christèle du Souich, David W Stockton, Lisa E Kratz, David Cunningham, Glenda Hendson, Ryan D Morin, Diane Wu, Jessica E Paul, Jianghong An, Tanya N Nelson, Athena Chou, Andrea E DeBarber, Louise S Merkens, Jacques L Michaud, Paula J Waters, Jingyi Yin, Barbara McGillivray, Michelle Demos, Guy A Rouleau, Karl-Heinz Grzeschik, Raffaella Smith, Patrick S Tarpey, Debbie Shears, Charles E Schwartz, Jozef Gecz, Michael R Stratton, Laura Arbour, Jane Hurlburt, Margot I Van Allen, Gail E Herman, Yongjun Zhao, Richard Moore, Richard I Kelley, Steven J M Jones, Robert D Steiner, F Lucy Raymond, Marco A Marra, Cornelius F Boerkoel
PMID: 21129721
2010

Characterization of a New X-linked Mental Retardation Syndrome With Microcephaly, Cortical Malformation, and Thin Habitus
American Journal of Medical Genetics Part A
Christèle du Souich, Athena Chou, Jingyi Yin, Tracey Oh, Tanya N Nelson, Jane Hurlburt, Laura Arbour, Robin Friedlander, Barbara C McGillivray, Nataliya Tyshchenko, Andreas Rump, Kenneth J Poskitt, Michelle K Demos, Margot I Van Allen, Cornelius F Boerkoel
PMID: 19842190
2009

Clinical Study of Two Brothers With a Novel 33 Bp Duplication in the ARX Gene
American Journal of Medical Genetics Part A
Michelle K Demos, Tod Fullston, Michael W Partington, Jozef Gécz, William T Gibson
PMID: 19507262
2009

A Novel KCNA1 Mutation Associated With Global Delay and Persistent Cerebellar Dysfunction
Movement Disorders
Michelle K Demos, Vincenzo Macri, Kevin Farrell, Tanya N Nelson, Kristine Chapman, Eric Accili, Linlea Armstrong
PMID: 19205071
2009

Neonatal Hyperphenylalaninemia, Perinatal Hemochromatosis, and Renal Tubulopathy: A Unique Patient or a Novel Metabolic Disorder?
Molecular Genetics and Metabolism
Paula J Waters, Minesh Khashu, Yolanda Lillquist, Christof Senger, Andre Mattman, Michelle Demos, Kenneth Setchell, Anthony Rupar, Patrick Scott, Nenad Blau, Hilary D Vallance
PMID: 16182582
2005

6-pyruvoyl-tetrahydropterin Synthase Deficiency With Mild Hyperphenylalaninemia
Annals of Neurology
Michelle K Demos, Paula J Waters, Hilary D Vallance, Yolanda Lillquist, Nawal Makhseed, Keith Hyland, Nenad Blau, Mary B Connolly
PMID: 15984017
2005

Comparative Hemodynamics and Cardiovascular Effects of Endotoxin and Platelet-Activating Factor in Rat
Circulatory Shock
H Salari, M Demos, A Wong
PMID: 2261677
1990

Translocation-independent Activation of Protein Kinase C by Platelet-Activating Factor, Thrombin and Prostacyclin. Lack of Correlation With Polyphosphoinositide Hydrolysis in Rabbit Platelets
Biochemical Journal
H Salari, V Duronio, S Howard, M Demos, S L Pelech
PMID: 2160234
1990

Erbstatin Blocks Platelet Activating Factor-Induced Protein-Tyrosine Phosphorylation, Polyphosphoinositide Hydrolysis, Protein Kinase C Activation, Serotonin Secretion and Aggregation of Rabbit Platelets
FEBS Letters
H Salari, V Duronio, S L Howard, M Demos, K Jones, A Reany, A T Hudson, S L Pelech
PMID: 1691984
1990
Correction To: Pathophysiology of and Therapeutic Options for a GABRA1 Variant Linked to Epileptic Encephalopathy
Molecular Brain
Yun-Fei Bai, Michelle Chiu, Elizabeth S Chan, Peter Axerio-Cilies, Jie Lu, Linda Huh, Mary B Connolly, Ilaria Guella, Matthew J Farrer, Zhi-Qing David Xu, Lidong Liu, Michelle Demos, Yu Tian Wang
PMID: 32220239
2020

Pathophysiology of and Therapeutic Options for a GABRA1 Variant Linked to Epileptic Encephalopathy
Molecular Brain
Yun-Fei Bai, Michelle Chiu 3, Elizabeth S Chan, Peter Axerio-Cilies, Jie Lu, Linda Huh, Mary B Connolly, Ilaria Guella, Matthew J Farrer, Zhi-Qing David Xu, Lidong Liu, Michelle Demos, Yu Tian Wang
PMID: 31707987
2019

Dosage Related Efficacy and Tolerability of Cannabidiol in Children With Treatment-Resistant Epileptic Encephalopathy: Preliminary Results of the CARE-E Study
Frontiers in Neurology
Richard J Huntsman, Richard Tang-Wai, Jane Alcorn, Stephanie Vuong, Bryan Acton, Scott Corley, Robert Laprairie, Andrew W Lyon, Simona Meier, Darrell D Mousseau, Doris Newmeyer, Erin Prosser-Loose, Blair Seifert, Jose Tellez-Zenteno, Linda Huh, Edward Leung, Philippe Major 
PMID: 31333569
2019

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy
Frontiers in Neurology
Michelle Demos, Ilaria Guella, Conrado DeGuzman, Marna B McKenzie, Sarah E Buerki, Daniel M Evans, Eric B Toyota, Cyrus Boelman, Linda L Huh, Anita Datta, Aspasia Michoulas, Kathryn Selby, Bruce H Bjornson, Gabriella Horvath, Elena Lopez-Rangel, Clara D M van Karnebeek, Ramona Salvarinova, Erin Slade, Patrice Eydoux, Shelin Adam, Margot I Van Allen, Tanya N Nelson, Corneliu Bolbocean, Mary B Connolly, Matthew J Farrer
PMID: 31164858
2019

Baylisascariasis: A Young Boy With Neural Larva Migrans Due to the Emerging Raccoon Round Worm
Annals of Clinical and Translational Neurology
Mary Dunbar, Sandy Lu, Benetta Chin, Linda Huh, Simon Dobson, Ghada N Al-Rawahi, Muhammad G Morshed, Koen Vanden Driessche
PMID: 30847373
2018

The Protocol for the Cannabidiol in Children With Refractory Epileptic Encephalopathy (CARE-E) Study: A Phase 1 Dosage Escalation Study
BMC Pediatrics
Darren Reithmeier, Richard Tang-Wai, Blair Seifert, Andrew W Lyon, Jane Alcorn, Bryan Acton, Scott Corley, Erin Prosser-Loose, Darrell D Mousseau, Hyun J Lim, Jose Tellez-Zenteno, Linda Huh, Edward Leung, Lionel Carmant, Richard J Huntsman
PMID: 29981580
2018

Factors Associated With Treatment Delays in Pediatric Refractory Convulsive Status Epilepticus
Neurology
I Sánchez Fernández, M Gaínza-Lein, N S Abend, A E Anderson, R Arya, J N Brenton, J L Carpenter, K E Chapman, J Clark, W D Gaillard, T A Glauser, J L Goldstein, H P Goodkin, A R Helseth, M C Jackson, K Kapur, Y-C Lai, T L McDonough, M A Mikati, A Nayak, K Peariso, J J Riviello Jr, R C Tasker, D Tchapyjnikov, A A Topjian, M S Wainwright, A Wilfong, K Williams, T Loddenkemper, Pediatric Status Epilepticus Research Group (pSERG) (Collaborator: Linda Huh)
PMID: 29643084
2018

Secondary Abnormal CSF Neurotransmitter Metabolite Profiles in a Pediatric Tertiary Care Centre
Canadian Journal of Neurological Sciences
Clara D M van Karnebeek, Mary Dunbar, Csilla Egri, Bryan Sayson, Janetta Milea, Sylvia Stockler-Ipsiroglu, Linda Huh, Mary B Connolly, Gabriella A Horvath
2018

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy
American Journal of Human Genetics
Ilaria Guella, Marna B McKenzie, Daniel M Evans, Sarah E Buerki, Eric B Toyota, Margot I Van Allen, Epilepsy Genomics Study (Collaborator: Linda Huh); Mohnish Suri, Frances Elmslie, Deciphering Developmental Disorders Study; Marleen E H Simon, Koen L I van Gassen, Delphine Héron, Boris Keren, Caroline Nava, Mary B Connolly, Michelle Demos, Matthew J Farrer
DOI: 10.1016/j.ajhg.2017.07.004
PMID: 28777935
2017

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
American Journal of Human Genetics
Anna Lehman, Samrat Thouta, Grazia M S Mancini, Sakkubai Naidu, Marjon van Slegtenhorst, Kirsty McWalter, Richard Person, Jill Mwenifumbo, Ramona Salvarinova, CAUSES Study; EPGEN Study (Collaborator: Linda Huh); Ilaria Guella, Marna B McKenzie, Anita Datta, Mary B Connolly, Somayeh Mojard Kalkhoran, Damon Poburko, Jan M Friedman, Matthew J Farrer, Michelle Demos, Sonal Desai, Thomas Claydon
PMID: 28669405
2017

Clinical Experience With Perampanel for Refractory Pediatric Epilepsy in One Canadian Center
Journal of Child Neurology
Anita N Datta, Qi Xu, Shafina Sachedina, Cyrus Boelman, Linda Huh, Mary B Connolly
2017

Association of Periodic and Rhythmic Electroencephalographic Patterns With Seizures in Critically Ill Patients
JAMA Neurology
Andres Rodriguez Ruiz, Jan Vlachy, Jong Woo Lee, Emily J Gilmore, Turgay Ayer, Hiba Arif Haider, Nicolas Gaspard, J Andrew Ehrenberg, Benjamin Tolchin, Tadeu A Fantaneanu, Andres Fernandez, Lawrence J Hirsch, Suzette LaRoche, Critical Care EEG Monitoring Research Consortium (Collaborator: Linda Huh)
2017

De Novo FGF12 Mutation in 2 Patients With Neonatal-Onset Epilepsy
Neurology Genetics
Ilaria Guella, Linda Huh, Marna B McKenzie, Eric B Toyota, E Martina Bebin, Michelle L Thompson, Gregory M Cooper, Daniel M Evans, Sarah E Buerki, Shelin Adam, Margot I Van Allen, Tanya N Nelson, Mary B Connolly, Matthew J Farrer, Michelle Demos
PMID: 27872899
2016

Sensitivity of Quantitative EEG for Seizure Identification in the Intensive Care Unit
Neurology
Hiba A Haider, Rosana Esteller, Cecil D Hahn, M Brandon Westover, Jonathan J Halford, Jong W Lee, Mouhsin M Shafi, Nicolas Gaspard, Susan T Herman, Elizabeth E Gerard, Lawrence J Hirsch, Joshua A Ehrenberg, Suzette M LaRoche, Critical Care EEG Monitoring Research Consortium (Collaborator: Linda Huh)
PMID: 27466474
2016

Development and Feasibility Testing of a Critical Care EEG Monitoring Database for Standardized Clinical Reporting and Multicenter Collaborative Research
Journal of Clinical Neurophysiology
Jong Woo Lee, Suzette LaRoche, Hyunmi Choi, Andres A Rodriguez Ruiz, Evan Fertig, Jeffrey M Politsky, Susan T Herman, Tobias Loddenkemper, Arnold J Sansevere, Pearce J Korb, Nicholas S Abend, Joshua L Goldstein, Saurabh R Sinha, Keith E Dombrowski, Eva K Ritzl, Michael B Westover, Jay R Gavvala, Elizabeth E Gerard, Sarah E Schmitt, Jerzy P Szaflarski, Kan Ding, Kevin F Haas, Richard Buchsbaum, Lawrence J Hirsch, Courtney J Wusthoff, Jennifer L Hopp, Cecil D Hahn, Critical Care EEG Monitoring Research Consortium (CCEMRC) (Collaborator: Linda Huh)
PMID: 26943901
2016

New-onset Refractory Status Epilepticus: Etiology, Clinical Features, and Outcome
Neurology
Nicolas Gaspard, Brandon P Foreman, Vincent Alvarez, Christian Cabrera Kang, John C Probasco, Amy C Jongeling, Emma Meyers, Alyssa Espinera, Kevin F Haas, Sarah E Schmitt, Elizabeth E Gerard, Teneille Gofton, Peter W Kaplan, Jong W Lee, Benjamin Legros, Jerzy P Szaflarski, Brandon M Westover, Suzette M LaRoche, Lawrence J Hirsch, Critical Care EEG Monitoring Research Consortium (CCEMRC) (Collaborator: Linda Huh)
PMID: 26296517
2015

Brivaracetam, but Not Ethosuximide, Reverses Memory Impairments in an Alzheimer's Disease Mouse Model
Alzheimer's Research & Therapy
Haakon B Nygaard, Adam C Kaufman, Tomoko Sekine-Konno, Linda L Huh, Hilary Going, Samantha J Feldman, Mikhail A Kostylev, Stephen M Strittmatter
2015

Status Epilepticus Amauroticus and Posterior Reversible Encephalopathy Syndrome in Children
Journal of Clinical Neurophysiology
Valeria L Muro, Samuel Yip, Linda Huh, Mary B Connolly
2013

Early Onset Absence Epilepsy: 1 in 10 Cases Is Caused by GLUT1 Deficiency
Epilepsia
Todor Arsov, Saul A Mullen, John A Damiano, Kate M Lawrence, Linda L Huh, Melinda Nolan, Helen Young, Anaïs Thouin, Hans-Henrik M Dahl, Samuel F Berkovic, Douglas E Crompton, Lynette G Sadleir, Ingrid E Scheffer
PMID: 23106342
2012

Discontinuation of Antiepileptic Drugs After Successful Epilepsy Surgery. A Canadian Survey
Epilepsy Research
José F Téllez-Zenteno, Lizbeth Hernández Ronquillo, Nathalie Jette, Jorge G Burneo, Dang Khoa Nguyen, Elizabeth J Donner, Mark Sadler, Mano Javidan M, Donald W Gross, Samuel Wiebe, Canadian Epilepsy Surgery Study Group (Collaborator: Linda Huh)
PMID: 22595484
2012

Chapter 35 - Urea Cycle Disorders. The Causes of Epilepsy. Common and Uncommon Causes in Adults and Children
Cambridge University Press
Linda Huh, Kevin Farrell
2012

Evaluation of Two Year Treatment Outcome and Limited Impact of Arginine Restriction in a Patient With GAMT Deficiency
Molecular Genetics and Metabolism
Saadet Mercimek-Mahmutoglu 1, Mary Dunbar, Andrea Friesen, Susan Garret, Carol Hartnett, Linda Huh, Graham Sinclair, Sylvia Stockler, Stephen Wellington, Petra J W Pouwels, Gajja S Salomons, Cornelis Jakobs
2012

Guideline for the Management of Convulsive Status Epilepticus in Infants and Children
BC Medical Journal
James Lee, Linda Huh, Paul Korn, Kevin Farrell
2011

Six New Patients with Creatine Deficiency Syndromes Identified by Selective Screening in British Columbia
Molecular Genetics and Metabolism
Saadet Mercimek-Mahmutoglu, Yolanda P Lillquist, E Roland, Linda Huh
2011

Adverse Neurologic Reactions After Both Doses of Pandemic H1N1 Influenza Vaccine With Optic Neuritis and Demyelination
Pediatric Infectious Disease Journal
Keswadee Lapphra, Linda Huh, David W Scheifele
PMID: 20686434
2011

A Prospective Study of Loss of Consciousness in Epilepsy Using Virtual Reality Driving Simulation and Other Video Games
Epilepsy & Behavior
Li Yang, Thomas B Morland, Kristen Schmits, Elizabeth Rawson, Poojitha Narasimhan, Joshua E Motelow, Michael J Purcaro, Kathy Peng, Saned Raouf, Matthew N Desalvo, Taemin Oh, Jerome Wilkerson, Jessica Bod, Aditya Srinivasan, Pimen Kurashvili, Joseph Anaya, Peter Manza, Nathan Danielson, Christopher B Ransom, Linda Huh, Susan Elrich, Jose Padin-Rosado, Yamini Naidu, Kamil Detyniecki, Hamada Hamid, Pue Farooque, Robert Astur, Bo Xiao, Robert B Duckrow, Hal Blumenfeld
PMID: 20537593
2010 

Age Related Focal Epileptic Seizures and Syndromes in Children and Adolescents (Symptomatic)
L Huh, H Blumenfeld, E Novotny
2009

Outcomes of Epilepsy Surgery in Adults and Children
Lancet Neurology
Susan Spencer, Linda Huh
PMID: 18485316
2009

Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype
Neuroscience
Gabriella A Horvath, Yulin Zhao, Maja Tarailo-Graovac, Cyrus Boelman, Harinder Gill, Casper Shyr, James Lee, Ingrid Blydt-Hansen, Britt I Drögemöller, Jacqueline Moreland, Colin J Ross, Wyeth W Wasserman, Andrea Masotti, Paul A Slesinger, Clara D M van Karnebeek
PMID: 29852244
2018

Nusinersen Versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
New England Journal of Medicine
Richard S Finkel, Eugenio Mercuri, Basil T Darras, Anne M Connolly, Nancy L Kuntz, Janbernd Kirschner, Claudia A Chiriboga, Kayoko Saito, Laurent Servais, Eduardo Tizzano, Haluk Topaloglu, Már Tulinius, Jacqueline Montes, Allan M Glanzman, Kathie Bishop, Z John Zhong, Sarah Gheuens, C Frank Bennett, Eugene Schneider, Wildon Farwell, Darryl C De Vivo, ENDEAR Study Group (Collaborator: James Lee)
PMID: 29091570
2017

Guideline for the Management of Convulsive Status Epilepticus in Infants and Children
BC Medical Journal
James Lee, Linda Huh, Paul Korn, Kevin Farrell
2011

Cerebral Sinus Thrombosis Following IV Immunoglobulin Therapy of Immune Thrombocytopenia Purpura
Pediatric Blood & Cancer
Arwa Z Al-Riyami, James Lee, Mary Connolly, Evan Shereck
DOI: 10.1002/pbc.22968
PMID: 21445949
2011

Hospital Mortality Due to Pulmonary Embolism and an Evaluation of the Usefulness of Preventative Interventions
Thrombosis Research
Dimitrios Scarvelis, Josdalyne Anderson, Laurie Davis, Melissa Forgie, James Lee, Linn Petersson, Tim Ramsay, Philip S Wells
PMID: 19647292
2010

Prolonged Deprivation of Sleep-Like Rest Raises Metabolic Rate in the Pacific Beetle Cockroach, Diploptera Punctata (Eschscholtz)
Journal of Experimental Biology
Richard Stephenson, Karen M Chu, James Lee
PMID: 17601958
2017

Risk for Heparin-Induced Thrombocytopenia With Unfractionated and Low-Molecular-Weight Heparin Thromboprophylaxis: A Meta-Analysis
Blood
Nadine Martel, James Lee, Philip S Wells
DOI: 10.1182/blood-2005-04-1546
PMID: 15985543
2005

Design and Validation of a Computer-Based Sleep-Scoring Algorithm
Journal of Neuroscience
Rhain P Louis, James Lee, Richard Stephenson
PMID: 14757347
2004
Two Patients With KCNT1-Related Epilepsy Responding to Phenobarbital and Potassium Bromide
Journal of Child Neurology
Anita N Datta, Aspasia Michoulas, Ilaria Guella, EPGEN Study; Michelle Demos
DOI: 10.1177/0883073819854853
PMID: 31208268
2019

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy
Frontiers in Neurology
Michelle Demos, Ilaria Guella, Conrado DeGuzman, Marna B McKenzie, Sarah E Buerki, Daniel M Evans, Eric B Toyota, Cyrus Boelman, Linda L Huh, Anita Datta, Aspasia Michoulas, Kathryn Selby, Bruce H Bjornson, Gabriella Horvath, Elena Lopez-Rangel, Clara D M van Karnebeek, Ramona Salvarinova, Erin Slade, Patrice Eydoux, Shelin Adam, Margot I Van Allen, Tanya N Nelson, Corneliu Bolbocean, Mary B Connolly, Matthew J Farrer
PMID: 31164858
2019

Nusinersen Versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
New England Journal of Medicine
Richard S Finkel, Eugenio Mercuri, Basil T Darras, Anne M Connolly, Nancy L Kuntz, Janbernd Kirschner, Claudia A Chiriboga, Kayoko Saito, Laurent Servais, Eduardo Tizzano, Haluk Topaloglu, Már Tulinius, Jacqueline Montes, Allan M Glanzman, Kathie Bishop, Z John Zhong, Sarah Gheuens, C Frank Bennett, Eugene Schneider, Wildon Farwell, Darryl C De Vivo, ENDEAR Study Group (Collaborator: Aspasia Michoulas)
DOI: 10.1056/NEJMoa1702752
PMID: 29091570
2017

An Infant With Epilepsy and Recurrent Hemiplegia Due to Compound Heterozygous Variants in ATP1A2
Pediatric Neurology
Colin Wilbur, Sarah E Buerki, Ilaria Guella, Eric B Toyota, Daniel M Evans, Marna B McKenzie, Anita Datta, Aspasia Michoulas, Shelin Adam, Margot I Van Allen, Tanya N Nelson, Matthew J Farrer, Mary B Connolly, Michelle Demos
PMID: 28811059
2017

The Relationship Between D-Beta-Hydroxybutyrate Blood Concentrations and Seizure Control in Children Treated With the Ketogenic Diet for Medically Intractable Epilepsy
Epilepsia Open
Jeffrey R Buchhalter, Sabrina D'Alfonso, Mary Connolly, Ernest Fung, Aspasia Michoulas, David Sinasac, Rachel Singer, Jacklyn Smith, Narender Singh, Jong M Rho
PMID: 29588960
2017

Case Report: QARS Deficiency and Favorable Outcome Following Treatment of Seizures With Ketogenic Diet
Journal of Child Neurology
Anita Datta, Alex Ferguson, Chris Simonson, Francesca Zannotto, Aspasia Michoulas, Elke Roland, Clara van Karnebeek, Ramona Salvarinova
PMID: 28056632
2017

Exome Sequencing and the Management of Neurometabolic Disorders
New England Journal of Medicine
Maja Tarailo-Graovac, Casper Shyr, Colin J Ross, Gabriella A Horvath, Ramona Salvarinova, Xin C Ye, Lin-Hua Zhang, Amit P Bhavsar, Jessica J Y Lee, Britt I Drögemöller, Mena Abdelsayed, Majid Alfadhel, Linlea Armstrong, Matthias R Baumgartner, Patricie Burda, Mary B Connolly , Jessie Cameron, Michelle Demos, Tammie Dewan, Janis Dionne, A Mark Evans, Jan M Friedman, Ian Garber, Suzanne Lewis, Jiqiang Ling, Rupasri Mandal, Andre Mattman, Margaret McKinnon, Aspasia Michoulas, Daniel Metzger, Oluseye A Ogunbayo, Bojana Rakic, Jacob Rozmus, Peter Ruben, Bryan Sayson, Saikat Santra, Kirk R Schultz, Kathryn Selby, Paul Shekel, Sandra Sirrs, Cristina Skrypnyk, Andrea Superti-Furga, Stuart E Turvey, Margot I Van Allen, David Wishart, Jiang Wu, John Wu, Dimitrios Zafeiriou, Leo Kluijtmans, Ron A Wevers, Patrice Eydoux, Anna M Lehman, Hilary Vallance, Sylvia Stockler-Ipsiroglu, Graham Sinclair, Wyeth W Wasserman, Clara D van Karnebeek 
PMID: 27276562
2016

Approach to a Child with a First Afebrile Seizure
BC Medical Journal
Aspasia Michoulas, Kevin Farrell, Mary Connolly
2011

Allergies: A Motherhood Issue
Pharmacy Practice
A Michoulas, DK McInnes, J Yee, MHH Ensom
2000

Evaluation of Vomiting and Antiemetic Use in Postoperative Pediatric Inpatients
Journal of Pediatric Pharmacy Practice
A Michoulas, CA Court, DP Hamilton, MHH Ensom, CJ Montgomery
1999

The Role of Hypoxia-Ischemia in Term Newborns With Arterial Stroke
Pediatric Neurology
Aspasia Michoulas, S Nigel Basheer, Elke H Roland, Ken Poskitt, Steven Miller, Alan Hill
PMID: 21397165
2011

Medical Management of Lennox-Gastaut Syndrome
CNS Drugs
Aspasia Michoulas, Kevin Farrell
PMID: 20158289
2010

Oxidative Stress in Children Receiving Valproic Acid
Journal of Pediatrics
Aspasia Michoulas, Vincent Tong, Xiao Wei Teng, Thomas K H Chang, Frank S Abbott, Kevin Farrell
DOI: 10.1016/j.jpeds.2006.08.015
PMID: 17095346
2006

Antihypertensive Effects of Vanadium Compounds in Hyperinsulinemic, Hypertensive Rats

Molecular and Cellular Biochemistry

S Bhanot, A Michoulas, J H McNeill

DOI: 10.1007/bf01075939

PMID: 8927040

1995

Multiscale Structure-Function Gradients in the Neonatal Connectome
Cerebral Cortex
Sara Larivière, Reinder Vos de Wael, Seok-Jun Hong, Casey Paquola, Shahin Tavakol, Alexander J Lowe, Dewi V Schrader, Boris C Bernhardt

Targeting Age-Related Differences in Brain and Cognition With Multimodal Imaging and Connectome Topography Profiling
Human Brain Mapping
Alexander J. Lowe, Casey Paquola, Reinder Vos de Wael, Manesh Girn, Sara Lariviere, Shahin Tavakol, Benoit Caldairou, Jessica Royer, Dewi V. Schrader, Andrea Bernasconi, Neda Bernasconi, R. Nathan Spreng, Boris C. Bernhardt
DOI: 10.1002/hbm.24767
PMID: 31444896
2019

Brain Morphometry: Epilepsy
Brain Morphometry
Dewi S. Schrader, Neda Bernasconi, Andrea Bernasconi
2018

Multimodal MRI Profiling of Focal Cortical Dysplasia Type II
Neurology
Seok-Jun Hong, Boris C Bernhardt, Benoit Caldairou, Jeffery A Hall, Marie C Guiot, Dewi Schrader, Neda Bernasconi, Andrea Bernasconi

Whole-brain MRI Phenotyping in Dysplasia-Related Frontal Lobe Epilepsy
Neurology
Seok-Jun Hong, Boris C Bernhardt, Dewi S Schrader, Neda Bernasconi, Andrea Bernasconi
PMID: 26764030
2016

Automated Detection of Cortical Dysplasia Type II in MRI-negative Epilepsy
Neurology
Seok-Jun Hong, Hosung Kim, Dewi Schrader, Neda Bernasconi, Boris C Bernhardt, Andrea Bernasconi

Advances in MRI for 'Cryptogenic' Epilepsies
Nature Reviews Neurology
Andrea Bernasconi, Neda Bernasconi, Boris C Bernhardt, Dewi Schrader
PMID: 21243016
2011

Epilepsy With Occipital Features in Children: Factors Predicting Seizure Outcome and Neuroimaging Abnormalities
European Journal of Paediatric Neurology
Dewi Schrader, Ruchika Shukla, Renee Gatrill, Kevin Farrell, Mary Connolly
PMID: 20829080
2011

Cingulate Lesions Presenting With Epileptic Spasms
Journal of Clinical Neurophysiology
Dewi Schrader, Lisa Langill, Ash Singhal, Paul Steinbok, Mary B Connolly
DOI: 10.1097/WNP.0b013e3181baaacf
PMID: 19752743
2009

Urgent, Resective Surgery for Medically Refractory, Convulsive Status Epilepticus
European Journal of Paediatric Neurology
Dewi V Schrader, Paul Steinbok, Mary Connolly
PMID: 18460420
2009

The Role of Neurosurgery in Status Epilepticus
Neurocritical Care
Yu-Tze Ng, Ruth E Bristol, Dewi V Schrader, Kris A Smith
2007


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