Anne Lortie
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View article: Real-world experience of switching to taliglucerase among patients with Gaucher disease in Québec: A case series
Real-world experience of switching to taliglucerase among patients with Gaucher disease in Québec: A case series Open
View article: Choroid Plexus Volume in Pediatric-Onset Multiple Sclerosis
Choroid Plexus Volume in Pediatric-Onset Multiple Sclerosis Open
CPV measured at baseline is greater in participants with POMS than in HCs. Baseline CPV did not predict higher disease activity or worse neurologic outcomes over 1 year. While higher CPV may be an early feature of inflammation in MS, its s…
View article: Brain language networks and cognitive outcomes in children with frontotemporal lobe epilepsy
Brain language networks and cognitive outcomes in children with frontotemporal lobe epilepsy Open
Introduction Pediatric frontal and temporal lobe epilepsies (FLE, TLE) have been associated with language impairments and structural and functional brain alterations. However, there is no clear consensus regarding the specific patterns of …
View article: CJN volume 49 issue 3 Cover and Front matter
CJN volume 49 issue 3 Cover and Front matter Open
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View article: Comparison of Spinal Cord Magnetic Resonance Imaging Features Among Children With Acquired Demyelinating Syndromes
Comparison of Spinal Cord Magnetic Resonance Imaging Features Among Children With Acquired Demyelinating Syndromes Open
These findings suggest that several features may help identify children at presentation who are more likely to have myelitis associated with MOGAD. Prominent involvement of gray matter and leptomeningeal enhancement are common in pediatric…
View article: Recognition of Psychogenic Versus Epileptic Seizures Based on Videos
Recognition of Psychogenic Versus Epileptic Seizures Based on Videos Open
Objective: Ictal semiology interpretation for differentiating psychogenic nonepileptic seizures (PNESs) and epileptic seizures (ESs) is important for the institution of appropriate treatment. Our objective was to assess the ability of diff…
View article: Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis
Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis Open
View article: OP09.02: The concordance between the prenatal imaging and neuropathological diagnosis of fetuses presenting cerebral abnormalities during the second and third trimester of pregnancy
OP09.02: The concordance between the prenatal imaging and neuropathological diagnosis of fetuses presenting cerebral abnormalities during the second and third trimester of pregnancy Open
To evaluate the concordance between antenatal imaging of cerebral anomalies and postmortem neuropathological diagnosis in cases of termination of pregnancy (TOP). In this retrospective cohort study, 121 women with a singleton pregnancy had…
View article: Table of Contents
Table of Contents Open
View article: Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons Open
View article: Intracranial hypertension following sacrifice of occipital and marginal sinuses during posterior fossa decompression for Chiari I malformation: case report
Intracranial hypertension following sacrifice of occipital and marginal sinuses during posterior fossa decompression for Chiari I malformation: case report Open
The occipital and marginal sinuses, when present, must be sacrificed in order to open the dura in most posterior fossa surgeries in the pediatric population, including posterior fossa decompression for Type I Chiari malformation (CM-I) wit…
View article: Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study
Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study Open
View article: VALIDITY OF PARENT-COMPLETED DEVELOPMENTAL SCREENING IN CHILDREN WITH NEW-ONSET EPILEPSY BELOW THE AGE OF 3
VALIDITY OF PARENT-COMPLETED DEVELOPMENTAL SCREENING IN CHILDREN WITH NEW-ONSET EPILEPSY BELOW THE AGE OF 3 Open
BACKGROUND Infants with childhood-onset epilepsies, including epileptic encephalopathies, are at high risk of developmental challenges such as motor and language delays. There has been a growing focus on developmental screening instruments…
View article: High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies Open
View article: Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene
Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene Open
View article: Periictal activity in cooled asphyxiated neonates with seizures
Periictal activity in cooled asphyxiated neonates with seizures Open
View article: P14.07: Like mother, like daughter: maternal diagnosis of <scp>COL4A1</scp> mutation after prenatal presentation in offspring
P14.07: Like mother, like daughter: maternal diagnosis of <span>COL4A1</span> mutation after prenatal presentation in offspring Open
A 20-year old G1 patient was referred early in pregnancy for genetics counselling at our tertiary care centre. The patient presented with developmental and mental retardation and microcephaly that had been attributed to perinatal asphyxia …
View article: The long-term outcome of children with refractory epilepsy after a vagal nerve stimulator implantation: CHU Sainte-Justine experience
The long-term outcome of children with refractory epilepsy after a vagal nerve stimulator implantation: CHU Sainte-Justine experience Open
Background: Debate persists in Canada about the cost and benefit of vagal nerve stimulation in patients with refractory epilepsy. The aim of our study was to evaluate the impact of a vagal nerve stimulator on the seizure frequency and the …
View article: CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms Open