selected scholarly activity
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conferences
- De novo heterozygous HSPD1 variants: A novel mechanism in hypomyelinating leukodystrophy type 4?. European Journal of Human Genetics. 200-200. 2019
- FP28-TU-04 Cerebral venous sinus thrombosis and common childhood illness. Journal of the Neurological Sciences. S102-S102. 2009
- Antiepileptic drug induced electroclinical worsening in benign epilepsy of childhood with centro-temporal spikes. Epilepsia. 348-349. 2007
- Siblings' perceptions and feelings about the ketogenic diet therapy for children with epilepsy. Epilepsia. 95-96. 2007
- Pediatric Neurology Services in Canada. Journal of Child Neurology. 180-184. 2003
- Neurological outcome in survivors of neonatal arterial ischemic stroke and cerebral sinovenous thrombosis: A prospective longitudinal study. Annals of Neurology. S138-S138. 2003
- Hospital-based pediatric neurology services in Canada. Annals of Neurology. S131-S131. 2001
- Chickenpox and Stroke in Childhood. Stroke. 1257-1262. 2001
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journal articles
- HSP60 chaperone deficiency disrupts the mitochondrial matrix proteome and dysregulates cholesterol synthesis.. Molecular Metabolism. 88:102009. 2024
- The epilepsy phenotype of ST3GAL3‐related developmental and epileptic encephalopathy. Epilepsia Open. 8:623-632. 2023
- Significant vomiting and weight loss in a pediatric epilepsy patient secondary to vagus nerve stimulation: A case report and review of the literature. Epilepsy and Behavior Reports. 24:100626-100626. 2023
- Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity. International Journal of Molecular Sciences. 23:15133-15133. 2022
- The spectrum of epilepsy in children with 15q13.3 microdeletion syndrome. Seizure : the journal of the British Epilepsy Association. 92:221-229. 2021
- A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy. Cold Spring Harbor Molecular Case Studies. 6:a004879-a004879. 2020
- MRI and laboratory features and the performance of international criteria in the diagnosis of multiple sclerosis in children and adolescents: a prospective cohort study. The Lancet Child and Adolescent Health. 2:191-204. 2018
- Epidemiology and Outcomes of Arterial Ischemic Stroke in Children: The Canadian Pediatric Ischemic Stroke Registry. Pediatric Neurology. 69:58-70. 2017
- Feasibility and Reliability of Muscle Strength Testing in Critically Ill Children. Journal of Pediatric Intensive Care. 04:218-224. 2015
- Encephalitis with refractory seizures, status epilepticus, and antibodies to the GABAA receptor: a case series, characterisation of the antigen, and analysis of the effects of antibodies. Lancet Neurology. 13:276-286. 2014
- SUDEP: What do parents want to know?. Epilepsy and Behavior. 29:560-564. 2013
- Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C. American Journal of Medical Genetics, Part A. 161:2020-2023. 2013
- Blepharophimosis-ptosis-epicanthus inversus syndrome plus. Clinical Dysmorphology. 21:48-52. 2012
- Clinical, environmental, and genetic determinants of multiple sclerosis in children with acute demyelination: a prospective national cohort study. Lancet Neurology. 10:436-445. 2011
- Incidence of acquired demyelination of the CNS in Canadian children. Neurology. 72:232-239. 2009
- From Eugenic Euthanasia to Habilitation of ``Disabled'' Children: Andreas Rett's Contribution. Journal of Child Neurology. 24:115-127. 2009
- Presence of Alanine-to-Valine Substitutions in Myofibrillogenesis Regulator 1 in Paroxysmal Nonkinesigenic Dyskinesia. JAMA Neurology. 62:597-597. 2005
- Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations. American Journal of Human Genetics. 72:1544-1550. 2003
- Syringomyelia Presenting as Rapidly Progressive Foot Drop. Journal of Clinical Neuromuscular Disease. 3:133-134. 2002
- Neuropsychological assessment in children with absence epilepsy. Neurology. 57:1940-1940. 2001
- Cerebral Sinovenous Thrombosis in Children. New England Journal of Medicine. 345:417-423. 2001
- Myasthenia gravis and polymyositis as manifestations of chronic graft-versus-host-disease. Bone Marrow Transplantation. 23:397-399. 1999