A5088572719- Epilepsy research and treatment
- Neuroscience and Neuropharmacology Research
- Pharmacological Effects and Toxicity Studies
- Genetics and Neurodevelopmental Disorders
- Neurological disorders and treatments
- Metabolism and Genetic Disorders
- EEG and Brain-Computer Interfaces
- Genomics and Rare Diseases
- Glycogen Storage Diseases and Myoclonus
- Neonatal and fetal brain pathology
- Neural dynamics and brain function
- Advanced MRI Techniques and Applications
- Autoimmune Neurological Disorders and Treatments
- Functional Brain Connectivity Studies
- Sleep and Wakefulness Research
- Mitochondrial Function and Pathology
- Genomic variations and chromosomal abnormalities
- Neurological and metabolic disorders
- Neuroscience and Neural Engineering
- Diet and metabolism studies
- Drug Transport and Resistance Mechanisms
- Fetal and Pediatric Neurological Disorders
- Genetic Neurodegenerative Diseases
- Biochemical Analysis and Sensing Techniques
- Botulinum Toxin and Related Neurological Disorders
Hôpitaux Universitaires de Strasbourg
2014-2025
Université de Strasbourg
2016-2025
Hôpital Civil, Strasbourg
2006-2024
Inserm
2010-2022
Hôpital d'Hautepierre
2013-2022
Institut National des Sciences Appliquées de Strasbourg
2022
Centre National de la Recherche Scientifique
1992-2020
Institut de génétique et de biologie moléculaire et cellulaire
2015-2020
Hospices Civils de Lyon
2001-2019
Université Claude Bernard Lyon 1
2015-2018
The International League Against Epilepsy (ILAE) Classification of the Epilepsies has been updated to reflect our gain in understanding epilepsies and their underlying mechanisms following major scientific advances that have taken place since last ratified classification 1989. As a critical tool for practicing clinician, epilepsy must be relevant dynamic changes thinking, yet robust translatable all areas globe. Its primary purpose is diagnosis patients, but it also research, development...
The International League Against Epilepsy (ILAE) presents a revised operational classification of seizure types. purpose such revision is to recognize that some types can have either focal or generalized onset, allow when the onset unobserved, include missing types, and adopt more transparent names. Because current knowledge insufficient form scientifically based classification, 2017 Classification (practical) on 1981 Classification, extended in 2010. Changes following: (1) "partial" becomes...
Summary This companion paper to the introduction of International League Against Epilepsy ( ILAE ) 2017 classification seizure types provides guidance on how employ classification. Illustration is enacted by tables, a glossary relevant terms, mapping old new suggested abbreviations, and examples. Basic extended versions are available, depending desired degree detail. Key signs symptoms seizures (semiology) used as basis for categories that focal or generalized from onset with unknown onset....
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...
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)...
Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is an episodic movement disorder autosomal-dominant inheritance and high penetrance, but the causative genetic mutation unknown.We have now identified four truncating mutations involving gene PRRT2 in vast majority (24/25) of well-characterized families PKD/IC.PRRT2 were also detected 28 78 additional families.PRRT2 encodes a proline-rich transmembrane protein unknown function that has been reported to interact t-SNARE,...
国際抗てんかん連盟(ILAE)は,1989年の前回分類以降の大きな科学的進歩によっててんかんやその発症機序に関する理解が深まったことをうけ,今回てんかん分類を改訂するに至った。てんかん分類は臨床医に不可欠なツールとして,考え方の変化に関連し変動するものでなければならないが,同時に確固たるものでかつ全世界で翻訳可能なものでなければならない。てんかん分類の第一の目的は患者の診断であるが,てんかんの研究,治療法の開発,世界中のコミュニケーションにおいても重要である。今回の新たな分類は,パブリック・コメントを募集するために2013年に提出した初案に端を発しており,数回にわたる協議を経ててんかんに関わる世界各国の人々からの幅広い意見を組み込んで改訂されたものである。この分類には3つのレベルがある。最初のレベルは「発作型」診断であり,2017年ILAE発作分類の定義に基づいて患者がてんかん発作を有していることを前提としている。発作型診断の次のステップは「てんかん病型」診断であり,焦点てんかん,全般てんかん,全般焦点合併てんかん,病型不明てんかんのいずれかに分類される。3つ目のレベルは「てんか...
PurposeTo define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 NPRL3 genes encoding GATOR1 complex, a negative regulator mTORC1 pathwayMethodsWe analyzed clinical genetic data 73 novel probands (familial sporadic) with epilepsy-related variants in GATOR1-encoding proposed new guidelines for interpretation variants.ResultsThe seizure phenotype consisted mostly focal seizures (e.g., hypermotor or frontal lobe 50%), mean age at onset 4.4 years, often...
Alterations of the N-methyl-d-aspartate receptor (NMDAR) subunit GluN2A, encoded by GRIN2A, have been associated with a spectrum neurodevelopmental disorders prominent speech-related features, and epilepsy. We performed comprehensive assessment phenotypes standardized questionnaire in 92 previously unreported individuals GRIN2A-related disorders. Applying criteria American College Medical Genetics Genomics to all published variants yielded 156 additional cases pathogenic or likely resulting...
Epilepsy syndromes have been recognized for >50 years, as distinct electroclinical phenotypes with therapeutic and prognostic implications. Nonetheless, no formally accepted International League Against (ILAE) classification of epilepsy has existed. The ILAE Task Force on Nosology Definitions was established to reach consensus regarding which entities fulfilled criteria an syndrome provide definitions each syndrome. We defined "a characteristic cluster clinical electroencephalographic...
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.
Alternative methods, for the treatment of medically refractory epileptic patients, who cannot be treated by resective surgery, such as chronic deep brain neurostimulation, are under development. Such methods have been used in cerebellum, various thalamic nuclei, and caudate nucleus. In Grenoble, encouraged suppressive effects pharmacological or electrical inhibition STN on different types seizure animal models epilepsy, our experience with high frequency stimulation (HFS) patients movement...
Although so-called "benign" epilepsy with centrotemporal spikes (BECTS) always has an excellent prognosis regard to seizure remission, behavioral problems and cognitive dysfunctions may sometimes develop in its course. To search for clinical or EEG markers allowing early detection of patients prone such complications, the authors conducted a prospective study cohort unselected BECTS.In 35 children BECTS, academic, familial, neurologic, neuropsychological, wake sleep evaluations were repeated...
To report three patients with drug-resistant nocturnal hypermotor seizures (NHSs), no detectable brain lesion, and clinically defined frontal lobe epilepsy (NFLE) or autosomal dominant NLFE (ADNFLE), whose intracerebral EEG ictal onset primarily involved the insula, rather than mesial orbital cortex. Fourteen to 15 electrodes were implanted in each patient, sampling lobes 80 91 recording leads covering most likely side of seizure onset, two six placed within ipsilateral insula. Electrical...
The rolandic and sylvian fissures divide the human cerebral hemispheres adjacent areas participate in speech processing. relationship of (sylvian) seizure disorders with cognitive impairments is well known, albeit poorly understood. We have identified Xq22 gene SRPX2 as being responsible for seizures (RSs) associated oral dyspraxia mental retardation (MR). a secreted sushi-repeat containing protein expressed neurons adult brain, including area. disease-causing mutation (N327S) resulted...
In five children with normal initial psychomotor development, a Landau-Kleffner syndrome appeared at age 3-7 years. No neuroanatomic lesions were noted. Aphasia and hyperkinesia isolated in three patients associated global regression of higher cortical functions one patient. Massive intellectual deterioration psychotic behavior transient aphasia The epilepsy (focal motor generalized tonic-clonic seizures, subclinical EEG focal seizures during sleep, atypical absences) always regressed...
Five children with Landau-Kleffner syndrome (epilepsy, acquired aphasia, and continuous spike-wave discharges during sleep), were treated antiepileptic drugs (AEDs), sleep-modifying drugs, corticosteroids. The pharmacologic profiles differed from those observed in focal epilepsies, resembling instead of certain generalized such as West or Lennox-Gastaut syndromes. Phenobarbital (PB), carbamazepine (CBZ), phenytoin (PHT) ineffective worsened the EEG neuropsychological symptoms, whereas...
Summary Purpose: The continuous spike and waves during slow‐wave sleep syndrome (CSWSS) the Landau‐Kleffner (LKS) are two rare epileptic encephalopathies sharing common clinical features including seizures regression. Both CSWSS LKS can be associated with electroencephalography pattern of electrical status epilepticus part a continuum that at its benign end also includes rolandic epilepsy (RE) centrotemporal spikes. patients have behavioral manifestations overlap spectrum autism disorders...
Familial Adult Myoclonic Epilepsy (FAME) is a genetically heterogeneous disorder characterized by cortical tremor and seizures. Intronic TTTTA/TTTCA repeat expansions in SAMD12 (FAME1) are the main cause of FAME Asia. Using genome sequencing repeat-primed PCR, we identify another site this expansion, MARCH6 (FAME3) four European families. Analysis single DNA molecules with nanopore molecular combing show that range from 3.3 to 14 kb on average. However, observe considerable variability...