Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy

BACKGROUND AND OBJECTIVES: The 2-hit model of genetic disease is well established in cancer, yet has only recently been reported to cause brain malformations associated with epilepsy. Pathogenic germline and somatic variants in genes in the mechanistic target of rapamycin (mTOR) pathway have been im...

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Detalles Bibliográficos
Autores principales: Bennett, Mark F., Hildebrand, Michael S., Kayumi, Sayaka, Corbett, Mark A., Gupta, Sachin, Ye, Zimeng, Krivanek, Michael, Burgess, Rosemary, Henry, Olivia J., Damiano, John A., Boys, Amber, Gécz, Jozef, Bahlo, Melanie, Scheffer, Ingrid E., Berkovic, Samuel F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8789218/
https://www.ncbi.nlm.nih.gov/pubmed/35097204
http://dx.doi.org/10.1212/NXG.0000000000000652

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