- Overview
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Research focuses primarily on Epilepsy in the pediatric population, as well as epilepsy genetics.
- Publications
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Putting control into parents' hands: Parent experiences with a genomic results e-booklet
Journal of Genetic Counseling
Shelin Adam and Patricia Gombas and Michelle Demos and Cyrus Boelman and Mary B. Connolly and Kyrstin Lavelle and Jan M. Friedman and Alison M. Elliott and Patricia Birch
DOI: 10.1002/jgc4.70095
08/2025STXBP1-Related Disorders: Clinical Presentation, Molecular Function, Treatment, and Future Directions
Genes
Alexander Freibauer and Mikayla Wohlleben and Cyrus Boelman
DOI: 10.3390/genes14122179
12/2023Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations
BMC Medical Genetics
Yue T. K. Yuen and Ilaria Guella and Elke Roland and Michael Sargent and Cyrus Boelman
DOI: 10.1186/s12881-019-0827-6
12/2019Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots
G3: Genes|Genomes|Genetics
Mohammed Uddin and Marc Woodbury-Smith and Ada J. S. Chan and Ammar Albanna and Berge Minassian and Cyrus Boelman and Stephen W. Scherer
DOI: 10.1534/g3.118.200080
02/2018Global characterization of copy number variants in epilepsy patients from whole genome sequencing
Jean Monlong and Simon L. Girard and Caroline Meloche and Maxime Cadieux-Dion and Danielle M. Andrade and Ron G. Lafreniere and Micheline Gravel and Dan Spiegelman and Alexandre Dionne-Laporte and Cyrus Boelman and Fadi Hamdan and Jacques L. Michaud and Guy Rouleau and Berge A. Minassian and Guillaume Bourque and Patrick Cossette
DOI: 10.1101/199224
10/2017Clinical Experience With Perampanel for Refractory Pediatric Epilepsy in One Canadian Center
Journal of Child Neurology
Anita N. Datta and Qi Xu and Shafina Sachedina and Cyrus Boelman and Linda Huh and Mary B. Connolly
DOI: 10.1177/0883073817709195
05/2017Increased subcortical oligodendroglia-like cells in pharmacoresistant focal epilepsy in children correlate with extensive epileptogenic zones
Epilepsia
Satoru Sakuma and William C. Halliday and Ruka Nomura and Shiro Baba and Yosuke Sato and Kazuo Okanari and Midori Nakajima and Elysa Widjaja and Cyrus Boelman and Ayako Ochi and O. Carter Snead and James T. Rutka and James Drake and Steven Miller and Hiroshi Otsubo
DOI: 10.1111/epi.13590
11/2016A.01 Targeted analysis of whole exome sequencing and genotype-phenotype correlation in epileptic encephalopathies
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
SE Buerki and EB Toyota and I Guella and M McKenzie and D Evans and S Adam and MI van Allen and C Boelman and G Horvath and CD Van Karnebeek and P Eydoux and L Huh and A Datta and KA Selby and A Michoulas and TN Nelson and MJ Farrer and MB Demos and MB Connolly
DOI: 10.1017/cjn.2016.53
06/2016EEG in asymptomatic relatives of idiopathic epilepsy; a prospective study
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
BM Duaa and C Boelman and L Brunga and BA Minassian and D Andrade
DOI: 10.1017/cjn.2015.128
05/2015KCNQ2 mutations: genotype-phenotype association beyond epilepsy
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
SE Buerki and GA Horwath and MI Van Allen and A Datta and C Boelman and Z Abu Sharar and B Sayson and MB Connolly and CD van Karnebeek and MK Demos
DOI: 10.1017/cjn.2015.66
05/2015Spatial relationship between fast and slow components of ictal activities and interictal epileptiform discharges in epileptic spasms
Clinical Neurophysiology
Akiyama, T. and Akiyama, M. and Kobayashi, K. and Okanishi, T. and Boelman, C.G. and Nita, D.A. and Ochi, A. and Go, C.Y. and Snead, O.C. and Rutka, J.T. and Drake, J.M. and Chuang, S. and Otsubo, H.
DOI: 10.1016/j.clinph.2014.12.005
2015Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype
Brain
Jaffer, F. and Avbersek, A. and Vavassori, R. and Fons, C. and Campistol, J. and Stagnaro, M. and De Grandis, E. and Veneselli, E. and Rosewich, H. and Gianotta, M. and Zucca, C. and Ragona, F. and Granata, T. and Nardocci, N. and Mikati, M. and Helseth, A.R. and Boelman, C. and Minassian, B.A. and Johns, S. and Garry, S.I. and Scheffer, I.E. and Gourfinkel-An, I. and Carrilho, I. and Aylett, S.E. and Parton, M. and Hanna, M.G. and Houlden, H. and Neville, B. and Kurian, M.A. and Novy, J. and Sander, J.W. and Lambiase, P.D. and Behr, E.R. and Schyns, T. and Arzimanoglou, A. and Cross, J.H. and Kaski, J.P. and Sisodiya, S.M.
DOI: 10.1093/brain/awv243
2015Antithrombotic therapy for secondary stroke prevention in bacterial meningitis in children
Journal of Pediatrics
Boelman, C. and Shroff, M. and Yau, I. and Bjornson, B. and Richrdson, S. and Deveber, G. and Macgregor, D. and Moharir, M. and Askalan, R.
DOI: 10.1016/j.jpeds.2014.06.013
2014Preictal surrender of post-spike slow waves to spike-related high-frequency oscillations (80-200 Hz) is associated with seizure initiation
Epilepsia
Sato, Y. and Doesburg, S.M. and Wong, S.M. and Boelman, C. and Ochi, A. and Otsubo, H.
DOI: 10.1111/epi.12728
2014Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes
Pediatric Neurology
Boelman, C. and Lagman-Bartolome, A.M. and MacGregor, D.L. and McCabe, J. and Logan, W.J. and Minassian, B.A.
DOI: 10.1016/j.pediatrneurol.2014.08.015
2014Interictal high frequency oscillations correlating with seizure outcome in patients with widespread epileptic networks in tuberous sclerosis complex
Epilepsia
Okanishi, T. and Akiyama, T. and Tanaka, S.-I. and Mayo, E. and Mitsutake, A. and Boelman, C. and Go, C. and Snead, O.C. and Drake, J. and Rutka, J. and Ochi, A. and Otsubo, H.
DOI: 10.1111/epi.12761
2014Adjunctive dexamethasone in adults with meningococcal meningitis
Neurology
Boelman, C.G.
DOI: 10.1212/01.wnl.0000430451.92743.a5
2013Statistical mapping analysis of lesion location and neurological disability in multiple sclerosis: application to 452 patient data sets
NeuroImage
Arnaud Charil and Alex P Zijdenbos and Jonathan Taylor and Cyrus Boelman and Keith J Worsley and Alan C Evans and Alain Dagher
DOI: 10.1016/s1053-8119(03)00117-4
07/2003Correlation between MS lesions and disability using 3D voxel-based statistical analysis
NeuroImage
Arnaud Charil and Alex Zijdenbos and Cyrus Boelman and Jonathan Taylor and Keith J. Worsley and Alan C. Evans and Alain Dagher
DOI: 10.1016/s1053-8119(00)91601-x
05/2000 - Research
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The Personalized Medicine in the Treatment of Epilepsy
Identification of Genes Predisposing to the disease and to resistance to anti-epileptic treatments study is looking to identify genetic mutations responsible for various forms of epilepsy, as well as to understand the impact of genetic analysis and whole genome sequencing which will be used to study the participant's genes or their genome. This can lead to a better understanding of the disease and enable earlier diagnosis, as well as develop understanding of the genetic factors involved in anti-epileptic medication response at a personalized level.Research Group MembersVivienne Le, Summer Student
Vesna Popovska, Research Director, Pediatric Neurology & Neurosurgery
A strong case for virtual health in pediatric neurology
Dr. James Lee and colleagues found that virtual health in a pediatric neurology setting during the COVID-19 pandemic provided reliable, accessible and efficient patient care.
