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
Description
ISSN:1537-6605
DOI:10.1016/j.ajhg.2024.12.019