A5001244110- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Neonatal and fetal brain pathology
- Genetics and Neurodevelopmental Disorders
- Neuroscience and Neuropharmacology Research
- Neurological disorders and treatments
- Advanced MRI Techniques and Applications
- Functional Brain Connectivity Studies
- Glycogen Storage Diseases and Myoclonus
- Ion channel regulation and function
- Genomics and Rare Diseases
- Sleep and Wakefulness Research
- Cerebrospinal fluid and hydrocephalus
- Fetal and Pediatric Neurological Disorders
- Metabolism and Genetic Disorders
- Carbohydrate Chemistry and Synthesis
- Cellular transport and secretion
- Williams Syndrome Research
- Autism Spectrum Disorder Research
- Language Development and Disorders
- Family and Disability Support Research
- Traumatic Brain Injury Research
- Neurobiology of Language and Bilingualism
- Pharmaceutical studies and practices
- Attention Deficit Hyperactivity Disorder
Assistance Publique – Hôpitaux de Paris
2017-2024
Hôpital Necker-Enfants Malades
2016-2024
Université Paris Cité
2017-2022
Inserm
2015-2022
Laboratoire Plasticité du Cerveau
2022
Institut des Maladies Génétiques Imagine
2017-2021
Institut Necker Enfants Malades
2017-2018
Commissariat à l'Énergie Atomique et aux Énergies Alternatives
2016-2018
Délégation Paris 5
2017-2018
Hospices Civils de Lyon
2018
<h3>ABSTRACT</h3> <h3>Objective:</h3> To perform a clinical and genetic study of family with benign familial infantile seizures (BFIS) and, upon finding <i>PRRT2</i> gene mutation, to cohort probands similar phenotype. We extended the all available members find out whether mutations cosegregated additional symptoms. <h3>Methods:</h3> carried genealogic 3-generation 32 BFIS (11 families), convulsions paroxysmal choreoathetosis (ICCA) (9 BFIS/generalized epilepsy febrile plus (5 sporadic...
We aimed to assess a cohort of young patients with Dravet syndrome (DS) for intellectual disability (ID) and autism spectrum disorder (ASD) using standardized tools parental questionnaires delineate their specific profiles.We included 35 DS aged 24 months 7 years, excluding developmental age (DA) <18 (n = 5). performed tests adapted ID (Psychoeducational Profile, Third Edition [PEP-3]), in addition the Child Development Inventory (CDI) Vineland Adaptive Behavior Scales, Second (VABS-II)...
Abstract Focal cortical dysplasia, hemimegalencephaly and tubers are paediatric epileptogenic malformations of development (MCDs) frequently pharmacoresistant mostly treated surgically by the resection epileptic cortex. Availability samples has allowed significant mechanistic discoveries directly from human material. Causal brain somatic or germline mutations in AKT/PI3K/DEPDC5/MTOR genes have been identified. GABAA-mediated paradoxical depolarization, related to altered chloride (Cl−)...
Protocadherin 19 (PCDH19) mutations have been identified in epilepsy females with mental retardation as well patients a "Dravet-like" phenotype. We aimed to elucidate the electroclinical phenotype associated PCDH19 mutation, which is currently difficult identify at onset leading delay diagnosis. retrospectively reviewed clinical and EEG data for 13 consecutive or deletions diagnosed our centers from 2009 2011, followed these into adolescence adulthood. specific temporal sequence of...
Epilepsy surgery may be a curative therapy for patients with drug-resistant epilepsies when focal lesions or foci are identified. Genetic testing is not yet routinely included in many presurgical evaluation programs although recent evidence support that finding germline genetic mutation could help to better delineate the patient candidacy and provide valuable information on expected outcome. In this study, we report nine presenting epilepsy enrolled evaluation. We show how identification of...
BACKGROUND: Focal cortical dysplasia (FCD) causes drug-resistant epilepsy in children that can be cured surgically, but the lesions are often unseen by imaging. OBJECTIVE: To assess efficiency of arterial spin labeling (ASL), voxel-based-morphometry (VBM), fMRI electroencephalography (EEG), resting-state regional homogeneity (ReHo), 18F-fluorodeoxyglucose (FDG) positron emission tomography (PET), and their combination detecting pediatric FCD. METHODS: We prospectively included 10 for whom...
Benign neonatal sleep myoclonus is a common nonepileptic condition occurring in neurologically normal full-term newborns. During jerks, EEG has always been described as normal. The aim of this study was to describe changes associated with the myoclonic jerks.Polygraphic video-EEG recordings four neonates presenting benign were studied. Myoclonic jerks analyzed regarding their topography, frequency, propagation pattern, and reflex component. averaging time-locked somatosensory stimuli...
Abstract Periodic discharges are a rare peculiar electroencephalogram pattern, occasionally associated with motor or other clinical manifestations, usually observed in critically ill patients. Their underlying pathophysiology remains poorly understood. Epileptic spasms clusters and periodic manifestations share similar pattern some aetiologies of unfavourable prognosis such as subacute sclerosing panencephalitis herpes encephalitis. Arterial spin labelling magnetic resonance imaging...
Abstract Objective To quantify whole‐brain functional organization after complete hemispherotomy, characterizing unexplored plasticity pathways and the conscious level of dissected hemispheres. Methods Evaluation with multimodal magnetic resonance imaging in two pediatric patients undergoing right hemispherotomy including callosotomy a perithalamic section. Regional cerebral blood flow fMRI network connectivity assessed integrity both hemispheres surgery. The consciousness was tested by...
BACKGROUND AND OBJECTIVES: When seizure onset affects a whole hemisphere, hemispheric disconnections are efficient and safe procedures. However, both lateral peri-insular hemispherotomy vertical paramedian approaches report failure rate around 20%, which can be explained by residual connections giving rise to persistent seizures. In this study, we present the interhemispheric (IVH), technical variation of approach, that aims increase control avoiding while exposing corpus callosum. METHODS:...
Abstract Objective : Epileptic myoclonus (EM) is reported in many paediatric epilepsies from neonatal period to adolescence. Myoclonus can be the only seizure type or may occur among others, independently combination as a single ictal event. We report two children presenting with absences associated myoclonus, predominating on one side, setting of different types absence seizures and electro‐clinical syndromes. Methods Patients were explored long‐duration video‐EEG coupled surface EMG...
Abstract Background Focal cortical dysplasias (FCD) are a frequent cause of drug-resistant epilepsy in children but often undetected on structural magnetic resonance imaging (MRI). We aimed to measure and validate the variation resting state functional MRI (rs-fMRI) blood oxygenation level dependent (BOLD) metrics surgically proven FCDs children, assess potential yield for detecting understanding these lesions. Methods prospectively included pediatric patients with FCD inconclusive healthy...