A5060964068- Genetics and Neurodevelopmental Disorders
- Fetal and Pediatric Neurological Disorders
- Genomics and Rare Diseases
- Congenital heart defects research
- Cellular transport and secretion
- Glycogen Storage Diseases and Myoclonus
- Autoimmune Neurological Disorders and Treatments
- Metabolism and Genetic Disorders
- Genetic and Kidney Cyst Diseases
- RNA and protein synthesis mechanisms
- Neurological disorders and treatments
- Hedgehog Signaling Pathway Studies
- Ion channel regulation and function
- RNA Research and Splicing
- Cerebrovascular and Carotid Artery Diseases
- Genomic variations and chromosomal abnormalities
- Genetic Neurodegenerative Diseases
- Spinal Dysraphism and Malformations
- Mitochondrial Function and Pathology
- Neurological and metabolic disorders
- Epilepsy research and treatment
- Intracranial Aneurysms: Treatment and Complications
- Multiple Sclerosis Research Studies
- Sphingolipid Metabolism and Signaling
- Lysosomal Storage Disorders Research
Montreal Neurological Institute and Hospital
2010-2023
Centre Hospitalier de Luxembourg
2018-2023
Queen Fabiola Children's University Hospital
2018-2023
McGill University
2010-2023
Research Network (United States)
2023
Université Libre de Bruxelles
1993-2021
Max Planck Research Unit for Neurogenetics
2010-2014
University of California, San Francisco
2014
Okmeydanı Eğitim ve Araştırma Hastanesi
2014
Royal Victoria Infirmary
2014
Although there is increasing recognition of the role somatic mutations in genetic disorders, prevalence neurodevelopmental disease and optimal techniques to detect mosaicism have not been systematically evaluated.Using a customized panel known candidate genes associated with brain malformations, we applied targeted high-coverage sequencing (depth, ≥200×) leukocyte-derived DNA samples from 158 persons including double-cortex syndrome (subcortical band heterotopia, 30 persons), polymicrogyria...
Polymicrogyria is the most commonly diagnosed cortical malformation and associated with neurodevelopmental sequelae including epilepsy, motor abnormalities, cognitive deficits. frequently co-occurs other brain malformations or as part of syndromic diseases. Past studies polymicrogyria have defined heterogeneous genetic nongenetic causes but explained only a small fraction cases.
<h3>Background</h3> Joubert syndrome (JBTS) is a predominantly autosomal recessive disorder characterised by distinctive midhindbrain malformation, oculomotor apraxia, breathing abnormalities and developmental delay. JBTS genetically heterogeneous, involving genes required for formation function of non-motile cilia. Here we investigate the genetic basis in 12 French–Canadian (FC) individuals. <h3>Methods results</h3> Exome sequencing all subjects showed that six them carried rare compound...
While the transcription factor NEUROD2 has recently been associated with epilepsy, its precise role during nervous system development remains unclear. Using a multi-scale approach, we set out to understand how Neurod2 deletion affects of cerebral cortex in mice. In KO embryos, cortical projection neurons over-migrated, thereby altering final size and position layers. juvenile adults, spine density turnover were dysregulated apical but not basal compartments layer 5 neurons. Patch-clamp...
Abstract We studied a 10‐year‐old girl with Sydenham's chorea (SC) using positron emission tomography (PET) fluorodeoxyglucose (FDG). Choreic movements involved the head and left side of her body. PET showed increased glucose metabolism in right caudate nucleus putamen. Three months after complete recovery, striatal had returned to normal nucleus. In putamen, decreased compared that first study but remained elevated young adults. propose transient hypermetabolism may have been due afferent...
Dominant mutations in TUBB2B have been reported patients with polymicrogyria. We further explore the phenotype associated TUBB2B. Twenty polymicrogyria (five unilateral) were tested for by Sanger sequencing. identified two novel de novo mutations, c.743C>T (p.Ala248Val) and c.1139G>T (p.Arg380Leu) exon 4 of three unrelated families. Brain magnetic resonance images showed involving predominantly perisylvian regions. In addition, there was a dysmorphic appearance basal ganglia, thin corpus...
Elucidating the potential contribution of specific autoantibodies (Ab's) to etiology and/or pathology some human epilepsies.Six epilepsy patients with Rasmussen's encephalitis (RE) and 71 other epilepsies were tested for Ab's "B" peptide (amino acids 372-395) glutamate/AMPA subtype 3 receptor (GluR3B peptide), double-stranded DNA (dsDNA), additional autoimmune disease-associated autoantigens, ability their serum cerebrospinal-fluid (CSF) kill neurons.Elevated anti-GluR3B Ab' s found in CSF...
Abstract We report on nine unrelated children fitting a diagnosis of Carey–Fineman–Ziter syndrome (CFZS). All presented with Möbius sequence, Pierre Robin complex (6/9) or micrognathia, and hypotonia. Some had primary hypoventilation, delayed development, acral anomalies. The neuropathological investigations performed in two patients showed combination dysplastic lesions (neuronal heterotopias) encephaloclastic changes consisting small foci necrosis microcalcifications. mother third child...
Abstract We identified seven families associating NEUROD2 pathogenic mutations with ASD and intellectual disability. To get insight into the pathophysiological mechanisms, we analyzed cortical development in Neurod2 KO mice. Cortical projection neurons (CPNs) over-migrated during embryogenesis, inducing abnormal thickness laminar positioning of layers. At juvenile ages, dendritic spine turnover intrinsic excitability were increased L5 CPNs. Differentially expressed genes mice enriched for...
Interest in genetic malformations of the frontal lobe has grown from recognition that certain brain have a predilection for lobes or are more severe anterior brain. These can be deleterious, as humans particularly large comparison with those other species and play an important role cognitive developmental functions. A subset is confined to lobes, two including lobes; another group shows anteroposterior (a > p) gradient severity, such continuum agyria–pachyria/band heterotopia well several...
Abstract Polymicrogyria (PMG) is a heterogeneous brain malformation that may result from prenatal vascular disruption or infection, numerous genetic causes still remain difficult to identify. We identified three unrelated patients with polymicrogyria and duplications of chromosome 2p, defined the smallest region overlap, performed gene pathway analysis using Cytoscape. The overlap in all children involved 2p16.1‐p16.3. All have bilateral perisylvian (BPP), intrauterine postnatal growth...
OBJECTIVE: To demonstrate an extended phenotype of ULD (EPM1). BACKGROUND: is autosomal recessive neurodegenerative disease with progressive myoclonus epilepsy (PME), caused by cystatin B (CSTB) mutations. The onset usually between 6 and 15 years age, but the clinical course severity are variable. DESIGN/METHODS: proband who carried a diagnosis JME presented her partner for preconceptional genetic counseling. Carrier screening CSTB gene was out both, employing detection dodecamer repeat...
Neuro-Behçet's syndrome was investigated with CT scan and magnetic resonance imaging (MRI) a follow-up of 8.5 months, showing correlation the patient's clinical state reversibility both symptomatology radiological signs, especially chloraminophene.