Article

Single-cell genotyping and transcriptomic profiling in focal cortical dysplasia

2024-03-15

Abstract excerpt

<title>Abstract</title> <p>Focal cortical dysplasia type II (FCDII) is a cortical malformation causing refractory epilepsy. FCDII arises from developmental somatic mutations in mTOR pathway genes, leading to focal cortical dyslamination and abnormal cytomegalic cells. Which cell types carry pathogenic mutations and how they affect cell-type-specific transcriptional programs remains unknown. To address this questi...

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Literature Corpus work: dccc1af6-e748-5ddc-b612-bdce0e0538a0
DOI: 10.21203/rs.3.rs-4014535/v1

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