National Academy of Sciences
Proceedings of the National Academy of Sciences, Volume 122, Issue 29, July 2025.
SignificanceFocal cortical dysplasia (FCD) type 2 is a malformation of the cerebral cortex causing drug-resistant epilepsy that can be due to somatic variants in PI3K-mTOR pathway genes giving rise to a mosaic lesion…
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Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs
Proceedings of the National Academy of Sciences, Volume 122, Issue 29, July 2025. SignificanceFocal cortical dysplasia (FCD) type 2 is a malformation of the cerebral cortex causing drug-resistant epilepsy that can be due to somatic variants in PI3K-mTOR pathway genes giving rise to a mosaic lesion…