Article
Epilepsy-associated FOXJ3 variants link a transcriptional program of the PTEN-mTOR pathway to neuronal specification and cortical lamination.
Nature communications - 9 Mar 2026
Cheng Haw-Yuan, Liu Chen, Nien Chiao-Wen, Huang Hui-Chin, Zhao Hong-Jun, Nian Fang-Shin, Chen Chien, Custodio Helena Martins, Sisodiya Sanjay M, Lu Chien, Chen Hsin-Hung, Hsu Chih-Sin, Pi Wen-Chieh, Chu Chia-Chi, Hsu Jacob Shu-Jui, Chen Pei-Lung, Chang Fu-Pang, Tung Chien-Yi, Chou Shen-Ju, Alavi Shahryar, Houlden Henry, Chen Wei-Yi, Liu Yo-Tsen, Hou Pei-Shan, Tsai Jin-Wu
Abstract excerpt
Focal cortical dysplasia (FCD), a major cause of drug-resistant epilepsy, involves abnormal neuronal migration and cortical architecture, yet its molecular basis remains poorly defined. Here, we identify FOXJ3 pathogenic variants in patients with autosomal dominant focal epilepsy and FCD. In the developing mouse cortex, FOXJ3 declines sharply in neural progenitors after embryonic day 15.5. In utero...
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