A5061960212- Epilepsy research and treatment
- Childhood Cancer Survivors' Quality of Life
- Pharmacological Effects and Toxicity Studies
- Genetics and Neurodevelopmental Disorders
- Family and Disability Support Research
- Adolescent and Pediatric Healthcare
- Infant Development and Preterm Care
- Neonatal and fetal brain pathology
- Cerebral Palsy and Movement Disorders
- Diet and metabolism studies
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Ethics and Legal Issues in Pediatric Healthcare
- Autism Spectrum Disorder Research
- Neuroscience and Neuropharmacology Research
- Metabolism and Genetic Disorders
- Ethics in medical practice
- Fetal and Pediatric Neurological Disorders
- Neurogenetic and Muscular Disorders Research
- Child and Adolescent Health
- Family Support in Illness
- Ion channel regulation and function
- Neonatal Health and Biochemistry
- Congenital heart defects research
- Hedgehog Signaling Pathway Studies
McMaster University
2016-2025
Rambam Health Care Campus
2024
Media Working Group
2024
McMaster Children's Hospital
2013-2022
The Centre for Health (New Zealand)
2015
University Health Network
2015
McGill University
2015
University of Toronto
2015
Health Sciences Centre
2008-2012
McMaster University Medical Centre
1995-2012
GLUCOSE (D-glucose) is an essential fuel for the brain and many other tissues. Five glucose-transporter proteins facilitate diffusion of glucose across lipophilic plasma membranes.1 2 3 This pr...
<b>Objective: </b> To examine outcome and explore for prognostic markers in a cohort <10 years following neonatal seizures. <b>Methods: We prospectively diagnosed clinical seizures with high specificity true epileptic population-based setting of all live newborns the province Newfoundland, Canada, between 1990 1995. Children were followed by specialized provincial health services. Follow-up data collected on epilepsy, physical cognitive impairments, other heath issues. <b>Results: Data...
We studied a kindred of 69 affected individuals with the autosomal dominant epileptic syndrome benign familial neonatal convulsions, linked to chromosome 20. Forty-two percent had their seizure onset on day 3, while remission took place in 68% during first 6 weeks. Seizures were brief and phenotype was mixed type, starting tonic posture, ocular symptoms, apnea, other autonomic features. The often progressed clonic movements motor automatisms. postictal state brief, interictally neonates...
To answer a need to include and measure accurately the impact burden of epilepsy as outcomes interventions with affected children, we developed validated self-report parent-proxy respondent health-related quality life (HRQL) instruments for preadolescent children epilepsy.We combined qualitative quantitative research methods. Items were extracted from focus group discussions involving their parents. We created scales formatted alternative paired options forced responses used factor analysis...
Summary: Purpose: To determine whether long‐term treatment with valproate (VPA) and/or lamotrigine (LTG) in children epilepsy is associated altered growth bone metabolism. Methods: Twenty‐seven boys and 26 girls, aged 3 to 17 years (9.2 ± 3.9, mean SD), treated VPA LTG for ≥2 were evaluated growth, nutrient intakes, physical activity, mineral density (BMD), blood biochemical indices of Results: Twenty‐three (43.4%) the had a body height below 10th percentile. Z‐scores BMD –1.5 occurred 24.4%...
Summary Autosomal dominant mutations in the sodium‐gated potassium channel subunit gene KCNT 1 have been associated with two distinct seizure syndromes, nocturnal frontal lobe epilepsy ( NFLE ) and malignant migrating focal seizures of infancy MMFSI ). To further explore phenotypic spectrum , we examined individuals affected or an epileptic encephalopathy for gene. We identified 12 previously unreported patients epilepsy, multifocal cardiac arrhythmia, a family sudden unexpected death SUDEP...
Abstract Aim To develop a generic self‐management skills scale for use with adolescents diagnosed chronic health condition who are aged 12 to 18 years. Background There is lack of methodologically sound scales healthcare teams measure in conditions transitioning adult care. Methods Adolescents years broad range conditions, including neurodevelopmental were recruited from M ay A ugust 2013 nine outpatient clinics at c aster C hildren's H ospital ( anada). Thirty‐two participated cognitive...
To study child mental health, parental support, and social support of children with epilepsy as these relate to quality life (QOL) using self-report, seizure-related variables, estimated verbal intelligence based on receptive vocabulary.A cross-sectional structural equation model baseline data from the QUALITÉ cohort study, which includes 6 Canadian ambulatory programs. A sample 3,481 were screened for following eligibility: 8 14 years age, active or medication-managed epilepsy. Of 894...
Abstract By reviewing electroencephalographic reports compiled over five years and checking clinical details, we identified studied 27 children with apparently pure left or right temporal lobe epilepsy. The underwent neurological examination neuropsychological testing (Halstead‐Reitan Battery, Wechsler Intelligence Scale for Children [WISC] Wide Range Achievement Test), parents completed the Personality Inventory (PIC). Of 15 boys 12 girls a mean age of 12.7 years, 14 had 13 Seizure control...
Abstract Three mothers of infants with holoprosencephaly consumed alcohol heavily in pregnancy. We postulate that early exposure is a possible cause their malformation. The 3 only the first trimester but mother continued to take chlordiazepoxide and imipramine throughout Her infant had an alobar associated median cleft lip, ocular hypotelorism, flat nose. other semilobar hydrocephalus. These latter 2 did not show characteristic facies fetal syndrome. G‐band chromosome studies were normal all...
Rolandic epilepsy (RE) is the most common idiopathic focal childhood epilepsy.Its molecular basis largely unknown and a complex genetic etiology assumed in majority of affected individuals.The present study tested whether six large recurrent copy number variants at 1q21, 15q11.2,15q13.3,16p11.2,16p13.
To test whether mutations in γ-aminobutyric acid type A receptor (GABAA -R) subunit genes contribute to the etiology of rolandic epilepsy (RE) or its atypical variants (ARE).We performed exome sequencing compare frequency 18 GABAA -R 204 European patients with RE/ARE versus 728 platform-matched controls. Identified GABRG2 were functionally assessed for protein stability, trafficking, postsynaptic clustering, and function.Of screened genes, we detected an enrichment rare gene (5 204, 2.45%)...
Summary Rolandic epilepsy (RE) and its atypical variants (atypical rolandic epilepsy, ARE) along the spectrum of epilepsy–aphasia disorders are characterized by a strong but largely unknown genetic basis. Two genes with putative ( ELP4 ) or proven SRPX2 function in neuronal migration were postulated to confer susceptibility parts disease spectrum: gene centrotemporal spikes ARE. To reexamine these findings, we investigated cohort 280 patients European ancestry RE/ARE for etiological...
At present, there is no internationally accepted set of core outcomes or measurement methods for epilepsy clinical practice. The International Consortium Health Outcomes Measurement (ICHOM) convened an international working group experts in epilepsy, people with and their representatives to develop minimum sets standardized outcome Using modified Delphi consensus consecutive rounds online voting over 12 months, a corresponding tool packages capture the were identified infants, children,...
Separate groups of children with epilepsy, recruited from a regional pediatric epilepsy database, and their parents were established to discuss life epilepsy. Twenty-nine (aged between 6 years 10 4 months) 42 placed into nine 17 respectively. The participants provided information about own perceptions Discussions taped textual analysis followed extract, understand, explain, categorize the health-related quality (HRQL) components. process enabled us identify burdens concerns five emerging...