Article

Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs

2024-10-02

Abstract excerpt

Recent studies demonstrate growing roles for genetic mosaicism in neurodevelopmental and neuropsychiatric disorders, with the paradigm being drug-resistant pediatric focal epilepsy related to activating somatic variants in the PI3K-mTOR pathway. While identifying the genotype-associated changes at the single-cell level is fundamental to understanding disease pathophysiology, this remains technically challenging in...

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Literature Corpus work: 0eeb4b77-d07a-50ee-9568-474f3da0dfa9
DOI: 10.1101/2024.10.01.615793

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