Deep histopathology genotype–phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration deficient subtype IIb

Focal cortical dysplasia type II (FCDII) is the most common cause of drug-resistant focal epilepsy in children. Herein, we performed a deep histopathology-based genotype–phenotype analysis to further elucidate the clinico-pathological and genetic presentation of FCDIIa compared to FCDIIb. Seventeen...

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Detalles Bibliográficos
Autores principales: Honke, Jonas, Hoffmann, Lucas, Coras, Roland, Kobow, Katja, Leu, Costin, Pieper, Tom, Hartlieb, Till, Bien, Christian G., Woermann, Friedrich, Cloppenborg, Thomas, Kalbhenn, Thilo, Gaballa, Ahmed, Hamer, Hajo, Brandner, Sebastian, Rössler, Karl, Dörfler, Arnd, Rampp, Stefan, Lemke, Johannes R., Baldassari, Sara, Baulac, Stéphanie, Lal, Dennis, Nürnberg, Peter, Blümcke, Ingmar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10633947/
https://www.ncbi.nlm.nih.gov/pubmed/37946310
http://dx.doi.org/10.1186/s40478-023-01675-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10633947/
https://www.ncbi.nlm.nih.gov/pubmed/37946310
http://dx.doi.org/10.1186/s40478-023-01675-x

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