A5092069690- Genomics and Rare Diseases
- Thyroid Cancer Diagnosis and Treatment
- CRISPR and Genetic Engineering
- Metabolism and Genetic Disorders
- Cerebrovascular and genetic disorders
- Pharmacological Effects and Toxicity Studies
- Hedgehog Signaling Pathway Studies
- Diet and metabolism studies
- Teratomas and Epidermoid Cysts
- Advanced biosensing and bioanalysis techniques
- Renal function and acid-base balance
Fondation de Rothschild
2025
Université Paris Cité
2024
Centre National de la Recherche Scientifique
2023-2024
Assistance Publique – Hôpitaux de Paris
2024
NeuroDiderot
2024
Sorbonne Université
2023-2024
Institut du Cerveau
2023-2024
Hôpital Lariboisière
2024
Inserm
2023-2024
Hôpital Robert-Debré
2023
Brain-restricted somatic variants in genes of the mechanistic target rapamycin signalling pathway cause focal epilepsies associated with cortical dysplasia type II. We hypothesized that could be identified from trace tissue adherent to explanted stereoelectroencephalography electrodes used presurgical epilepsy workup localize epileptogenic zone. investigated three paediatric patients drug-resistant subjected neurosurgery. In resected brain tissue, we low-level mosaic mutations AKT3 and...
Hypothalamic hamartomas (HHs) are rare developmental brain lesions associated with drug-resistant epilepsy and often subjected to surgery. Brain somatic variants in genes affecting the Sonic hedgehog (Shh) primary cilia signaling pathways have been implicated approximately 50% of nonsyndromic HH cases. This study aims characterize a new cohort 9 cases elucidate their genetic etiology. We recruited including 8 which 4 were type IV HH. Genomic DNA was extracted from peripheral blood surgical...
Abstract PACS2 pathogenic variants are associated with an autosomal dominant syndrome (OMIM DEE66), associating developmental and epileptic encephalopathy, facial dysmorphism, cerebellar dysgenesis. However, no malformation of cortical development has been reported yet. We report here a seven‐year‐old child history infantile spasm right insular polymicrogyria pachygyria due to de novo recurrent mutation c.625G>A (p.Glu209Lys). Our observation raises the question role in development. It...