Publications by authors named "Rayann Checri"
Article Synopsis
- The study focuses on hypothalamic hamartomas (HHs), rare brain lesions linked to difficult-to-treat epilepsy, and explores their genetic causes in a new cohort of 9 HH patients.
- Researchers found harmful genetic variants in known HH-related genes in 7 out of 9 cases, also discovering a new two-hit mutation involving a gene related to brain development.
- The results highlight the significance of somatic mutations in Shh and cilia signaling pathways and point to the importance of genetic testing on brain tissue for understanding epilepsy disorders.
PACS2 pathogenic variants are associated with an autosomal dominant syndrome (OMIM DEE66), associating developmental and epileptic encephalopathy, facial dysmorphism, and cerebellar dysgenesis. However, no malformation of cortical development has been reported yet. We report here a seven-year-old child with a history of infantile epileptic spasm syndrome and a right insular polymicrogyria and pachygyria due to de novo PACS2 recurrent mutation c.
View Article and Find Full Text PDFBrain-restricted somatic variants in genes of the mechanistic target of rapamycin signalling pathway cause focal epilepsies associated with focal cortical dysplasia type II. We hypothesized that somatic variants could be identified from trace tissue adherent to explanted stereoelectroencephalography electrodes used in the presurgical epilepsy workup to localize the epileptogenic zone. We investigated three paediatric patients with drug-resistant focal epilepsy subjected to neurosurgery.
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