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Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.

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Title: Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.
Authors: Buchert R; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. Electronic address: rebecca.buchert@med.uni-tuebingen.de., Burkhalter MD; Department of Experimental and Clinical Pharmacology and Pharmacogenomics, Division of Pharmacogenomics, University of Tübingen, Tübingen, Germany., Huridou C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany., Sofan L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Roser T; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany., Cremer K; Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, Bonn, Germany., Alvi JR; Department of Pediatric Neurology, Institute of Child Health, Children's Hospital Lahore, Lahore, Pakistan., Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Froukh T; Department of Biotechnology and Genetic Engineering, Philadelphia University, Amman, Jordan., Gulieva S; MediClub Hospital, Baku, Azerbaijan., Guliyeva U; MediClub Hospital, Baku, Azerbaijan., Hamdallah M; Pediatrics Department, An-Najah National University Hospital, Nablus, Palestine., Holder-Espinasse M; Clinical Genetics Department, Guy's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK., Kaiyrzhanov R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Klingler D; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Koko M; Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Matthies L; Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, Bonn, Germany., Park J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Velic A; Proteome Center Tübingen, University of Tübingen, Tübingen, Germany., Spranger S; MVZ Humangenetik Bremen, Limbach Genetics, Bremen, Germany., Sultan T; Department of Pediatric Neurology, Institute of Child Health, Children's Hospital Lahore, Lahore, Pakistan., Engels H; Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, Bonn, Germany., Lerche H; Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Pagnamenta AT; NIHR Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford, UK., Borggraefe I; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany., Weber Y; Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Bonnen PE; Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Center for Rare Disease, University of Tübingen, Tübingen, Germany; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE)., Weber JJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany., Philipp M; Department of Experimental and Clinical Pharmacology and Pharmacogenomics, Division of Pharmacogenomics, University of Tübingen, Tübingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Center for Rare Disease, University of Tübingen, Tübingen, Germany; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE). Electronic address: tobias.haack@med.uni-tuebingen.de.
Source: American journal of human genetics [Am J Hum Genet] 2025 Feb 06; Vol. 112 (2), pp. 374-393. Date of Electronic Publication: 2025 Jan 16.
Publication Type: Journal Article
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.
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  Data: <searchLink fieldCode="AU" term="%22Buchert+R%22">Buchert R</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. Electronic address: rebecca.buchert@med.uni-tuebingen.de.<br /><searchLink fieldCode="AU" term="%22Burkhalter+MD%22">Burkhalter MD</searchLink>; Department of Experimental and Clinical Pharmacology and Pharmacogenomics, Division of Pharmacogenomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Huridou+C%22">Huridou C</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany.<br /><searchLink fieldCode="AU" term="%22Sofan+L%22">Sofan L</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Roser+T%22">Roser T</searchLink>; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Cremer+K%22">Cremer K</searchLink>; Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Alvi+JR%22">Alvi JR</searchLink>; Department of Pediatric Neurology, Institute of Child Health, Children's Hospital Lahore, Lahore, Pakistan.<br /><searchLink fieldCode="AU" term="%22Efthymiou+S%22">Efthymiou S</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Froukh+T%22">Froukh T</searchLink>; Department of Biotechnology and Genetic Engineering, Philadelphia University, Amman, Jordan.<br /><searchLink fieldCode="AU" term="%22Gulieva+S%22">Gulieva S</searchLink>; MediClub Hospital, Baku, Azerbaijan.<br /><searchLink fieldCode="AU" term="%22Guliyeva+U%22">Guliyeva U</searchLink>; MediClub Hospital, Baku, Azerbaijan.<br /><searchLink fieldCode="AU" term="%22Hamdallah+M%22">Hamdallah M</searchLink>; Pediatrics Department, An-Najah National University Hospital, Nablus, Palestine.<br /><searchLink fieldCode="AU" term="%22Holder-Espinasse+M%22">Holder-Espinasse M</searchLink>; Clinical Genetics Department, Guy's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Kaiyrzhanov+R%22">Kaiyrzhanov R</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Klingler+D%22">Klingler D</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Koko+M%22">Koko M</searchLink>; Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Matthies+L%22">Matthies L</searchLink>; Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Park+J%22">Park J</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Sturm+M%22">Sturm M</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Velic+A%22">Velic A</searchLink>; Proteome Center Tübingen, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Spranger+S%22">Spranger S</searchLink>; MVZ Humangenetik Bremen, Limbach Genetics, Bremen, Germany.<br /><searchLink fieldCode="AU" term="%22Sultan+T%22">Sultan T</searchLink>; Department of Pediatric Neurology, Institute of Child Health, Children's Hospital Lahore, Lahore, Pakistan.<br /><searchLink fieldCode="AU" term="%22Engels+H%22">Engels H</searchLink>; Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Lerche+H%22">Lerche H</searchLink>; Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Pagnamenta+AT%22">Pagnamenta AT</searchLink>; NIHR Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Borggraefe+I%22">Borggraefe I</searchLink>; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Weber+Y%22">Weber Y</searchLink>; Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Bonnen+PE%22">Bonnen PE</searchLink>; Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Maroofian+R%22">Maroofian R</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Riess+O%22">Riess O</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Center for Rare Disease, University of Tübingen, Tübingen, Germany; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE).<br /><searchLink fieldCode="AU" term="%22Weber+JJ%22">Weber JJ</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany.<br /><searchLink fieldCode="AU" term="%22Philipp+M%22">Philipp M</searchLink>; Department of Experimental and Clinical Pharmacology and Pharmacogenomics, Division of Pharmacogenomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Haack+TB%22">Haack TB</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Center for Rare Disease, University of Tübingen, Tübingen, Germany; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE). Electronic address: tobias.haack@med.uni-tuebingen.de.
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  Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2025 Feb 06; Vol. 112 (2), pp. 374-393. <i>Date of Electronic Publication: </i>2025 Jan 16.
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