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Epilepsy-associated FOXJ3 variants link a transcriptional program of the PTEN-mTOR pathway to neuronal specification and cortical lamination.

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Title: Epilepsy-associated FOXJ3 variants link a transcriptional program of the PTEN-mTOR pathway to neuronal specification and cortical lamination.
Authors: Cheng HY; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.; Laboratory of Molecular Regulation of Neurogenesis, GIGA-Stem Cells and GIGA-Neurosciences, Interdisciplinary Cluster for Applied Genoproteomics (GIGA-R), University of Liège, Liège, Belgium., Liu C; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan., Nien CW; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan., Huang HC; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan., Zhao HJ; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan., Nian FS; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.; Laboratory of Molecular Regulation of Neurogenesis, GIGA-Stem Cells and GIGA-Neurosciences, Interdisciplinary Cluster for Applied Genoproteomics (GIGA-R), University of Liège, Liège, Belgium., Chen C; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.; School of Medicine, National Yang Ming Chiao Tung University College of Medicine Taipei, Taipei, Taiwan.; Division of Epilepsy, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan., Custodio HM; Research Department of Epilepsy, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, and Chalfont Centre for Epilepsy, Buckinghamshire, London, UK., Sisodiya SM; Research Department of Epilepsy, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, and Chalfont Centre for Epilepsy, Buckinghamshire, London, UK., Lu C; School of Medicine, National Yang Ming Chiao Tung University College of Medicine Taipei, Taipei, Taiwan., Chen HH; School of Medicine, National Yang Ming Chiao Tung University College of Medicine Taipei, Taipei, Taiwan.; Department of Neurosurgery, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan., Hsu CS; Genomics Center for Clinical and Biotechnological Applications, Cancer and Immunology Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan., Pi WC; Institute of Biochemistry and Molecular Biology, College of Life Sciences, National Yang Ming Chiao Tung University, Taipei, Taiwan., Chu CC; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, Taiwan., Hsu JS; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, Taiwan., Chen PL; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, Taiwan.; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan., Chang FP; Department of Pathology and Laboratory Medicine, Taipei Veterans General Hospital, Taipei, Taiwan., Tung CY; Genomics Center for Clinical and Biotechnological Applications, Cancer and Immunology Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan., Chou SJ; Neuroscience Program of Academia Sinica (NPAS), Institute of Cellular and Organismic Biology, Academia Sinica, Taipei, Taiwan., Alavi S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK., Chen WY; Institute of Biochemistry and Molecular Biology, College of Life Sciences, National Yang Ming Chiao Tung University, Taipei, Taiwan., Liu YT; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan. ytliu2@vghtpe.gov.tw.; School of Medicine, National Yang Ming Chiao Tung University College of Medicine Taipei, Taipei, Taiwan. ytliu2@vghtpe.gov.tw.; Division of Epilepsy, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan. ytliu2@vghtpe.gov.tw.; Brain Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan. ytliu2@vghtpe.gov.tw., Hou PS; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan. pshou@nycu.edu.tw.; Brain Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan. pshou@nycu.edu.tw.; Institute of Anatomy and Cell Biology, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan. pshou@nycu.edu.tw., Tsai JW; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan. tsaijw@nycu.edu.tw.; Brain Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan. tsaijw@nycu.edu.tw.; Advanced Therapeutics Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan. tsaijw@nycu.edu.tw.; Department of Biological Science and Technology, College of Engineering Bioscience, National Yang Ming Chiao Tung University, Hsinchu, Taiwan. tsaijw@nycu.edu.tw.
Source: Nature communications [Nat Commun] 2026 Mar 09; Vol. 17 (1). Date of Electronic Publication: 2026 Mar 09.
Publication Type: Journal Article
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Epilepsy-associated FOXJ3 variants link a transcriptional program of the PTEN-mTOR pathway to neuronal specification and cortical lamination.
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  Data: <searchLink fieldCode="AU" term="%22Cheng+HY%22">Cheng HY</searchLink>; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.; Laboratory of Molecular Regulation of Neurogenesis, GIGA-Stem Cells and GIGA-Neurosciences, Interdisciplinary Cluster for Applied Genoproteomics (GIGA-R), University of Liège, Liège, Belgium.<br /><searchLink fieldCode="AU" term="%22Liu+C%22">Liu C</searchLink>; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Nien+CW%22">Nien CW</searchLink>; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Huang+HC%22">Huang HC</searchLink>; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Zhao+HJ%22">Zhao HJ</searchLink>; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Nian+FS%22">Nian FS</searchLink>; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.; Laboratory of Molecular Regulation of Neurogenesis, GIGA-Stem Cells and GIGA-Neurosciences, Interdisciplinary Cluster for Applied Genoproteomics (GIGA-R), University of Liège, Liège, Belgium.<br /><searchLink fieldCode="AU" term="%22Chen+C%22">Chen C</searchLink>; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.; School of Medicine, National Yang Ming Chiao Tung University College of Medicine Taipei, Taipei, Taiwan.; Division of Epilepsy, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Custodio+HM%22">Custodio HM</searchLink>; Research Department of Epilepsy, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, and Chalfont Centre for Epilepsy, Buckinghamshire, London, UK.<br /><searchLink fieldCode="AU" term="%22Sisodiya+SM%22">Sisodiya SM</searchLink>; Research Department of Epilepsy, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, and Chalfont Centre for Epilepsy, Buckinghamshire, London, UK.<br /><searchLink fieldCode="AU" term="%22Lu+C%22">Lu C</searchLink>; School of Medicine, National Yang Ming Chiao Tung University College of Medicine Taipei, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chen+HH%22">Chen HH</searchLink>; School of Medicine, National Yang Ming Chiao Tung University College of Medicine Taipei, Taipei, Taiwan.; Department of Neurosurgery, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Hsu+CS%22">Hsu CS</searchLink>; Genomics Center for Clinical and Biotechnological Applications, Cancer and Immunology Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Pi+WC%22">Pi WC</searchLink>; Institute of Biochemistry and Molecular Biology, College of Life Sciences, National Yang Ming Chiao Tung University, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chu+CC%22">Chu CC</searchLink>; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Hsu+JS%22">Hsu JS</searchLink>; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chen+PL%22">Chen PL</searchLink>; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, Taiwan.; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chang+FP%22">Chang FP</searchLink>; Department of Pathology and Laboratory Medicine, Taipei Veterans General Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Tung+CY%22">Tung CY</searchLink>; Genomics Center for Clinical and Biotechnological Applications, Cancer and Immunology Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chou+SJ%22">Chou SJ</searchLink>; Neuroscience Program of Academia Sinica (NPAS), Institute of Cellular and Organismic Biology, Academia Sinica, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Alavi+S%22">Alavi S</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Chen+WY%22">Chen WY</searchLink>; Institute of Biochemistry and Molecular Biology, College of Life Sciences, National Yang Ming Chiao Tung University, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Liu+YT%22">Liu YT</searchLink>; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan. ytliu2@vghtpe.gov.tw.; School of Medicine, National Yang Ming Chiao Tung University College of Medicine Taipei, Taipei, Taiwan. ytliu2@vghtpe.gov.tw.; Division of Epilepsy, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan. ytliu2@vghtpe.gov.tw.; Brain Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan. ytliu2@vghtpe.gov.tw.<br /><searchLink fieldCode="AU" term="%22Hou+PS%22">Hou PS</searchLink>; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan. pshou@nycu.edu.tw.; Brain Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan. pshou@nycu.edu.tw.; Institute of Anatomy and Cell Biology, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan. pshou@nycu.edu.tw.<br /><searchLink fieldCode="AU" term="%22Tsai+JW%22">Tsai JW</searchLink>; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan. tsaijw@nycu.edu.tw.; Brain Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan. tsaijw@nycu.edu.tw.; Advanced Therapeutics Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan. tsaijw@nycu.edu.tw.; Department of Biological Science and Technology, College of Engineering Bioscience, National Yang Ming Chiao Tung University, Hsinchu, Taiwan. tsaijw@nycu.edu.tw.
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