Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs
Sara Bizzotto, Maya Talukdar, Edward Stronge, Rosita B. Ramirez, Yingxi Yang, August Yue Huang, Qiwen Hu, Yingping Hou, Norma K. Hylton, Benjamin Finander, Ashton Tillett, Zinan Zhou, Brian H. Chhouk, Alissa M. D’Gama, Edward Yang, , Christopher A. Walsh
This study uses snRNA-seq and a new method called GO-TEN to analyze mosaic genetic variants in focal cortical dysplasia, revealing cell-autonomous and non-cell-autonomous transcriptional changes associated with epilepsy.
Proceedings of the National Academy of Sciences · Jul 17, 2025Peer-reviewedGenetics