A5035948297- Genetics and Neurodevelopmental Disorders
- Epilepsy research and treatment
- Genomics and Rare Diseases
- Neurological disorders and treatments
- Axon Guidance and Neuronal Signaling
- Glycogen Storage Diseases and Myoclonus
- Genetic Neurodegenerative Diseases
- Cellular transport and secretion
- Botulinum Toxin and Related Neurological Disorders
- Autism Spectrum Disorder Research
- Pharmacological Effects and Toxicity Studies
- Neurogenesis and neuroplasticity mechanisms
- Congenital heart defects research
- Transcranial Magnetic Stimulation Studies
- Neonatal and fetal brain pathology
- Autoimmune Neurological Disorders and Treatments
- Williams Syndrome Research
- Obsessive-Compulsive Spectrum Disorders
- Glioma Diagnosis and Treatment
- Fetal and Pediatric Neurological Disorders
- Trypanosoma species research and implications
- Ophthalmology and Eye Disorders
- Neuroscience and Neuropharmacology Research
- Venomous Animal Envenomation and Studies
- Connexins and lens biology
Inserm
2006-2024
Neurosciences Paris-Seine
2015-2024
Sorbonne Université
2010-2024
Institut du Cerveau
2014-2024
Centre National de la Recherche Scientifique
2014-2024
Institut de Biologie Paris-Seine
2015-2024
Assistance Publique – Hôpitaux de Paris
2006-2023
Pitié-Salpêtrière Hospital
2007-2023
Université Paris-Seine
2023
Université Paris Cité
2017
Dravet syndrome (DS) is a genetically determined epileptic encephalopathy mainly caused by de novo mutations in the SCN1A gene. Since 2003, we have performed molecular analyses large series of patients with DS, 27% whom were negative for or rearrangements SCN1A. In order to identify new genes responsible disorder SCN1A-negative patients, 41 probands screened micro-rearrangements Illumina high-density SNP microarrays. A hemizygous deletion on chromosome Xq22.1, encompassing PCDH19 gene, was...
<h3>Background</h3> Mutations in SCN1A can cause genetic epilepsy with febrile seizures plus (GEFS+, inherited missense mutations) or Dravet syndrome (DS, de novo mutations of all types). Although the mutational spectra are distinct, these disorders share major features and 10% DS patients have an mutation. <h3>Objectives patients</h3> 19 selected families at least one patient were studied to describe mechanisms accounting for DS. The mutation identified probands was searched available...
To investigate the clinical spectrum and distinguishing features of adenylate cyclase 5 (ADCY5)-related dyskinesia genotype-phenotype relationship.We analyzed ADCY5 in patients with choreiform or dystonic movements by exome targeted sequencing. Suspected mosaicism was confirmed allele-specific amplification. We evaluated our 50 new previously reported cases.We identified 3 families 12 sporadic cases mutations. These mutations cause a mixed hyperkinetic disorder that includes dystonia,...
Mutations in PCDH19, encoding protocadherin 19 on chromosome X, cause familial epilepsy and mental retardation limited to females or Dravet-like syndrome. Heterozygous are affected while hemizygous males spared, this unusual mode of inheritance being probably due a mechanism called cellular interference. To extend the mutational clinical spectra associated with we screened 150 unrelated patients (113 females) febrile afebrile seizures for mutations rearrangements gene. Fifteen novel point...
Purpose: Dominant mutations in the STXBP1 gene are a recently identified cause of infantile epileptic encephalopathy without metabolic and structural brain anomalies. To date, 25 patients with heterozygous mutation or deletion have been reported. A diagnosis early suppression-burst (Ohtahara syndrome) was made most them, spasms nonsyndromic being other patients. Although phenotypic spectrum STXBP1-related is emerging evidence suggesting relatively frequent involvement this encephalopathies,...
Abstract The execution of coordinated hand movements requires complex interactions between premotor and primary motor areas in the two hemispheres. supplementary area (SMA) is involved movement preparation bimanual coordination. How SMA controls coordination remains unclear, although there evidence suggesting that could modulate interhemispheric interactions. With a delayed‐response task, we investigated underlying normal role these during delay period unimanual or movements. We used...
De novo mutations in the SCN1A gene, encoding alpha1-subunit of neuronal voltage-gated sodium channel Nav1.1, are most frequent genetic cause Severe Myoclonic Epilepsy Infancy known so far. A few inherited from an asymptomatic or mildly affected parent have been reported, suggesting that expression mutated gene may be variable transmitting parent. In this study, we report two unrelated families which children unaffected parents had deleterious mutations, and show evidence somatic germline...
We screened a large series of individuals with congenital mirror movements (CMM) for mutations in the 2 identified causative genes, DCC and RAD51.We studied 6 familial 20 simplex CMM cases. Each patient had standardized neurologic assessment. Analysis RAD51 coding regions included Sanger sequencing quantitative method allowing detection micro rearrangements. then compared frequency rare variants predicted to be pathogenic by either PolyPhen-2 or SIFT algorithm our population 4,300 controls...
Netrin-1 is a secreted protein that was first identified 20 years ago as an axon guidance molecule regulates midline crossing in the CNS. It plays critical roles various tissues throughout development and implicated tumorigenesis inflammation adulthood. Despite extensive studies, no inherited human disease has been directly associated with mutations NTN1, gene coding for netrin-1. Here, we have 3 exon 7 of NTN1 2 unrelated families 1 sporadic case isolated congenital mirror movements (CMM),...
DCC, a NETRIN-1 receptor, is considered as cell-autonomous regulator for midline guidance of many commissural populations in the central nervous system. The corticospinal tract (CST), principal motor pathway voluntary movements, crosses anatomic at pyramidal decussation. CST fails to cross Kanga mice expressing truncated DCC protein. Humans with heterozygous mutations have congenital mirror movements (CMM). As CMM has been associated, some cases, malformations decussation, might also be...
Background: Mutations in the leucine-rich, gliomainactivated 1 (LGI1) gene have been implicated autosomal dominant lateral temporal epilepsy.Objective: To describe clinical and genetic findings 2 families with epilepsy functional consequences of novel mutations LGI1.
Dravet syndrome (DS) is a genetically determined epileptic encephalopathy mainly caused by de novo mutations in the SCN1A gene.Since 2003, we have performed molecular analyses large series of patients with DS, 27% whom were negative for or rearrangements SCN1A.In order to identify new genes responsible disorder SCN1A-negative patients, 41 probands screened micro-rearrangements Illumina high-density SNP microarrays.A hemizygous deletion on chromosome Xq22.1,encompassing PCDH19 gene, was found...
Although the group of paroxysmal kinesigenic dyskinesia (PKD) genes is expanding, molecular cause remains elusive in more than 50% cases.
Lafora disease is a fatal autosomal recessive form of progressive myoclonus epilepsy. Patients manifest and tonic-clonic seizures, visual hallucinations, intellectual, neurologic deterioration beginning in adolescence. The two genes known to be involved are EPM2A NHLRC1 (EPM2B). gene encodes laforin, dual-specificity protein phosphatase, the malin, an E3-ubiquitin ligase. proteins interact with each other and, as complex, thought regulate glycogen synthesis. Here, we report three families...
Genes involved in Tourette syndrome (TS) remain largely unknown. We aimed to identify genetic factors contributing TS a French cohort of 120 individuals using combination hypothesis-driven and exome-sequencing approaches.We first sequenced exons SLITRK1-6 HDC the subsequently exome 12 harboring rare variants these genes find additional disorder under hypothesis oligogenic inheritance. further screened three candidate (OPRK1, PCDH10, NTSR2) preferentially expressed basal ganglia, neurotensin...
<strong>Background:</strong> Genes involved in Tourette syndrome (TS) remain largely unknown. We aimed to identify genetic factors contributing TS a French cohort of 120 individuals using combination hypothesis-driven and exome-sequencing approaches. <strong>Methods:</strong> first sequenced exons <em>SLITRK1-6</em> <em>HDC</em> the subsequently exome 12 harboring rare variants these genes find additional disorder under hypothesis oligogenic inheritance. further screened three candidate...