A5069122824- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Neuroscience and Neuropharmacology Research
- Neonatal and fetal brain pathology
- Metabolism and Genetic Disorders
- Diet and metabolism studies
- Genetics and Neurodevelopmental Disorders
- Ion channel regulation and function
- Glycogen Storage Diseases and Myoclonus
- Genomics and Rare Diseases
- Neuroinflammation and Neurodegeneration Mechanisms
- Infectious Encephalopathies and Encephalitis
- Pharmaceutical studies and practices
- Mitochondrial Function and Pathology
- Anesthesia and Neurotoxicity Research
- Ion Transport and Channel Regulation
- Attention Deficit Hyperactivity Disorder
- Drug Transport and Resistance Mechanisms
- Tuberous Sclerosis Complex Research
- Fatty Acid Research and Health
- Lysosomal Storage Disorders Research
- Cellular transport and secretion
- EEG and Brain-Computer Interfaces
- Traumatic Brain Injury and Neurovascular Disturbances
- Autism Spectrum Disorder Research
Université Paris Cité
2016-2025
Assistance Publique – Hôpitaux de Paris
2016-2025
NeuroDiderot
2016-2025
Hôpital Robert-Debré
2016-2025
Inserm
2016-2025
Institut Universitaire de France
2021-2025
Délégation Paris 7
2016-2025
Sorbonne Paris Cité
2013-2025
ERN GUARD-Heart
2024
ERN EpiCARE
2023-2024
Summary Ketogenic dietary therapies ( KDTs ) are established, effective nonpharmacologic treatments for intractable childhood epilepsy. For many years were implemented differently throughout the world due to lack of consistent protocols. In 2009, an expert consensus guideline management children on KDT was published, focusing topics patient selection, pre‐ counseling and evaluation, diet choice attributes, implementation, supplementation, follow‐up, side events, discontinuation. It has been...
Abstract The International League Against Epilepsy (ILAE) Task Force on Nosology and Definitions proposes a classification definition of epilepsy syndromes in the neonate infant with seizure onset up to 2 years age. incidence is high this age group frequently associated significant comorbidities mortality. licensing syndrome specific antiseizure medications following randomized controlled trials development precision, gene‐related therapies are two drivers defining electroclinical phenotypes...
Abstract The 2017 International League Against Epilepsy classification has defined a three‐tier system with epilepsy syndrome identification at the third level. Although cannot be determined in all children epilepsy, of specific provides guidance on management and prognosis. In this paper, we describe childhood onset syndromes, most which have both mandatory seizure type(s) interictal electroencephalographic (EEG) features. Based Classification Seizures Epilepsies, some names been updated...
Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with spectrum of epilepsies and neurodevelopmental disorders. Here, we report phenotypes 71 patients review 130 previously reported patients. We found that (i) encephalopathies infantile/childhood onset (≥3 months age) occur almost as often those an early infantile (<3 months), are thus more frequent than reported; (ii) distinct can be seen within late group, including myoclonic-atonic epilepsy...
In 2017, the International League Against Epilepsy (ILAE) Classification of Epilepsies described "genetic generalized epilepsies" (GGEs), which contained "idiopathic (IGEs). The goal this paper is to delineate four syndromes comprising IGEs, namely childhood absence epilepsy, juvenile myoclonic and epilepsy with tonic-clonic seizures alone. We provide updated diagnostic criteria for these IGE determined by expert consensus opinion ILAE's Task Force on Nosology Definitions (2017-2021)...
Glut1 deficiency syndrome (Glut1DS) is a brain energy failure caused by impaired glucose transport across tissue barriers. Glucose diffusion barriers facilitated family of proteins including transporter type 1 (Glut1). Patients are treated effectively with ketogenic diet therapies (KDT) that provide supplemental fuel, namely ketone bodies, for metabolism. The increasing complexity Glut1DS, since its original description in 1991, now demands an international consensus statement regarding...
Fenfluramine treatment may reduce monthly convulsive seizure frequency in patients with Dravet syndrome who have poor control their current stiripentol-containing antiepileptic drug regimens.
Summary The ketogenic diet ( KD ) is an established treatment for refractory epilepsy, including some inflammation‐induced epileptic encephalopathies. In a lipopolysaccharide LPS )–induced fever model in rats, we found that animals given the 14 days showed less and lower proinflammatory cytokine levels than control animals. However, rats exhibited decrease circulating of arachidonic acid long‐chain n‐3 polyunsaturated fatty acids PUFA s), suggesting anti‐inflammatory effect was probably not...
Functional ultrasound imaging with high spatiotemporal resolution monitors brain function in babies.
The goal of this paper is to provide updated diagnostic criteria for the epilepsy syndromes that have a variable age onset, based on expert consensus International League Against Epilepsy Nosology and Definitions Taskforce (2017-2021). We use language consistent with current accepted seizure classifications incorporate knowledge from advances in genetics, electroencephalography, imaging. Our aim delineating present at aid diagnosis guide investigations etiology treatments these patients.
Abstract The International League Against Epilepsy (ILAE) has updated the operational classification of epileptic seizures, building upon framework established in 2017. This revision, informed by implementation experience, involved a working group appointed ILAE Executive Committee. Comprising 37 members from all regions, utilized modified Delphi process, requiring consensus threshold more than two thirds for any proposal. Following public comments, Committee seven additional experts to...
ABSTRACT Objective: To assess the incidence and location at diagnosis of inflammatory bowel disease in children adolescents northern France between 1988 1999. Methods: A 12‐year prospective population‐based study was conducted by gastroenterologists pediatric (1,312,141 <17 years age). Results: From to 1999, 509 cases childhood were recorded (7.2% all Northern France): 367 Crohn disease, 122 ulcerative colitis 20 indeterminate colitis. The mean standardized 3.1/10 5 for as a whole (2.3...
<h3>Background</h3> Over the last few years, array-comparative genomic hybridisation (CGH) has considerably improved our ability to detect cryptic unbalanced rearrangements in patients with syndromic mental retardation. <h3>Method</h3> Molecular karyotyping of six retardation was carried out using whole-genome oligonucleotide array-CGH. <h3>Results</h3> 5q14.3 microdeletions ranging from 216 kb 8.8 Mb were detected five unrelated following phenotypic similarities: severe absent speech,...
Summary Inflammatory signaling in the central nervous system (CNS) has been shown to exacerbate both seizure activity and seizure‐induced neuronal injury. However, it not firmly established whether neurodegeneration is a prerequisite of proconvulsant effect neuroinflammation, or latter may facilitate seizures without involving We examined effects inflammation rapid kindling model, where progression occurs absence neurodegeneration. P14 male Wistar rats were subjected procedure: 60 electrical...