Detection of brain somatic mutations in focal cortical dysplasia during epilepsy presurgical workup

Brain-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...

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Detalles Bibliográficos
Autores principales: Checri, Rayann, Chipaux, Mathilde, Ferrand-Sorbets, Sarah, Raffo, Emmanuel, Bulteau, Christine, Rosenberg, Sarah Dominique, Doladilhe, Marion, Dorfmüller, Georg, Adle-Biassette, Homa, Baldassari, Sara, Baulac, Stéphanie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10261848/
https://www.ncbi.nlm.nih.gov/pubmed/37324239
http://dx.doi.org/10.1093/braincomms/fcad174

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