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Brain malformations and seizures by impaired chaperonin function of TRiC.

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Title: Brain malformations and seizures by impaired chaperonin function of TRiC.
Authors: Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany., Rodriguez-Aliaga P; Department of Biology, Stanford University, Stanford, CA 94305, USA., Yuan W; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA., Franken L; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany., Zajt K; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany., Hasan D; Department for Diagnostic and Interventional Neuroradiology, RWTH Aachen University Hospital, Aachen 52074, Germany., Lee TT; Department of Biology, Stanford University, Stanford, CA 94305, USA., Flex E; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome 00161, Italy., Hentschel A; Leibniz- Institut für Analytische Wissenschaften -ISAS- e.V., Dortmund 44139, Germany., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary T2N 1N4, Canada., Zheng B; Nanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing 210008, China., Julia Suh DS; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany., Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany., Lausberg E; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany., Krause J; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany., Zhang X; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany., Trapane P; Division of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine-Jacksonville, Jacksonville, FL 32209, USA., Carroll R; Division of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine-Jacksonville, Jacksonville, FL 32209, USA., McClatchey M; Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK.; Division of Cancer and Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK., Fry AE; Division of Cancer and Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK., Wang L; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany., Giesselmann S; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany., Hoang H; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA., Baldridge D; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA., Silverman GA; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA., Radio FC; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy., Bertini E; Neuromuscular Disorders, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy., Ciolfi A; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy., Blood KA; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 2A1, Canada., de Sainte Agathe JM; Department of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne University, Paris 75005, France.; Laboratoire de Médecine Génomique Sorbonne Université, LBM SeqOIA, Paris 75014, France., Charles P; Department of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne University, Paris 75005, France., Bergant G; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana 1000, Slovenia., Čuturilo G; Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia, and University Children's Hospital, 11000 Belgrade, Serbia., Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana 1000, Slovenia., Diderich K; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GD, Netherlands., Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Robak L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Oegema R; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht 3584 CX, Netherlands., van Binsbergen E; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht 3584 CX, Netherlands., Herriges J; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO 64108, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA., Saunders CJ; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO 64108, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA.; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO 64108, USA., Maier A; Department of Neurology, University Hospital, RWTH Aachen University, Aachen 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany., Wolking S; Department of Epileptology and Neurology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany., Weber Y; Department of Epileptology and Neurology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany., Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada., Meyer S; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada., Aleman A; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada., Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Department of Neurology, National Institute of Mental Health and Neuro Sciences, Bangalore 560030, India., Nicolas G; Univ Rouen Normandie, Normandie univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Neurogenetics Diorders, F-76000 Rouen, France., Goldenberg A; Univ Rouen Normandie, Normandie univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Neurogenetics Diorders, F-76000 Rouen, France., Guyant L; Univ Rouen Normandie, Normandie univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Neurogenetics Diorders, F-76000 Rouen, France., Pope K; University of South Florida, College of Public Health, Tampa, FL 33612, USA.; Nemours Children's Health, Department of Pediatrics, Division of Genetics, Orlando, FL 32827, USA., Hehmeyer KN; Nemours Children's Health, Department of Pediatrics, Division of Genetics, Orlando, FL 32827, USA., Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA., Quade A; Division of Pediatric Neurology and Social Pediatrics, Department of Pediatrics, University Hospital RWTH Aachen, Aachen 52074, Germany., Smol T; Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille 59000, France., Caumes R; Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille 59000, France., Duerinckx S; Department of Pediatric Neurology, Hôpital Universitaire de Bruxelles, Hôpital Erasme, Université Libre de Bruxelles, Brussels 1070, Belgium., Depondt C; Department of Neurology, Hôpital Universitaire de Bruxelles, Hôpital Erasme, Université Libre de Bruxelles, Brussels 1070, Belgium., Van Paesschen W; Laboratory for Epilepsy Research, KU Leuven, Leuven 3000, Belgium.; Department of Neurology, University Hospitals Leuven, Leuven 3000, Belgium., Rieubland C; Department of Medical Genetics, Central Institute of the Hospitals, Hospital of the Valais, Sion 1951, Switzerland., Poloni C; Department of Medical Genetics, Central Institute of the Hospitals, Hospital of the Valais, Sion 1951, Switzerland., Guipponi M; Department of Genetic Medicine, University Hospitals of Geneva and University of Geneva Medical Faculty, Geneva 1205, Switzerland., Arcioni S; Department of Medical Genetics, Central Institute of the Hospitals, Hospital of the Valais, Sion 1951, Switzerland.; Division of Medical Genetics, Central Institute of Hospitals, Valais Hospital, Sion 1951, Switzerland., Meuwissen M; Center of Medical Genetics, Antwerp University Hospital/ University of Antwerp, Edegem 2650, Belgium., Jansen AC; Department of Pediatrics, Division of Child Neurology, Antwerp University Hospital, University of Antwerp, Edegem 2650, Belgium., Rosenblum J; Center of Medical Genetics, Antwerp University Hospital/ University of Antwerp, Edegem 2650, Belgium., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany., Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany., Gerstner L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany., Magg J; Department of Neuropediatrics, Developmental Neurology, Social Pediatrics, University Children's Hospital, University of Tübingen, Tübingen 72076, Germany., Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany., Schulz JB; Department of Neurology, University Hospital, RWTH Aachen University, Aachen 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany., Wagner N; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.; Department of Pediatrics, University Hospital RWTH Aachen, Aachen 52074, Germany., Wiesmann M; Department for Diagnostic and Interventional Neuroradiology, RWTH Aachen University Hospital, Aachen 52074, Germany., Weis J; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany., Eggermann T; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany., Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany., Roos A; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Department for Pediatric Neurology, University Medicine Essen, Duisburg-Essen University, 45147 Essen, Germany.; Institute of Neurology, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, 40225 Düsseldorf, Germany., Häusler M; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.; Division of Pediatric Neurology and Social Pediatrics, Department of Pediatrics, University Hospital RWTH Aachen, Aachen 52074, Germany., Schedl T; Department of Genetics, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy., Bremer J; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany., Pak SC; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA., Frydman J; Department of Biology, Stanford University, Stanford, CA 94305, USA., Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany., Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.
Source: Science (New York, N.Y.) [Science] 2024 Nov; Vol. 386 (6721), pp. 516-525. Date of Electronic Publication: 2024 Oct 31.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE
Database: MEDLINE Ultimate
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Items – Name: Title
  Label: Title
  Group: Ti
  Data: Brain malformations and seizures by impaired chaperonin function of TRiC.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Kraft+F%22">Kraft F</searchLink>; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.<br /><searchLink fieldCode="AU" term="%22Rodriguez-Aliaga+P%22">Rodriguez-Aliaga P</searchLink>; Department of Biology, Stanford University, Stanford, CA 94305, USA.<br /><searchLink fieldCode="AU" term="%22Yuan+W%22">Yuan W</searchLink>; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.<br /><searchLink fieldCode="AU" term="%22Franken+L%22">Franken L</searchLink>; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.<br /><searchLink fieldCode="AU" term="%22Zajt+K%22">Zajt K</searchLink>; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.<br /><searchLink fieldCode="AU" term="%22Hasan+D%22">Hasan D</searchLink>; Department for Diagnostic and Interventional Neuroradiology, RWTH Aachen University Hospital, Aachen 52074, Germany.<br /><searchLink fieldCode="AU" term="%22Lee+TT%22">Lee TT</searchLink>; Department of Biology, Stanford University, Stanford, CA 94305, USA.<br /><searchLink fieldCode="AU" term="%22Flex+E%22">Flex E</searchLink>; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome 00161, Italy.<br /><searchLink fieldCode="AU" term="%22Hentschel+A%22">Hentschel A</searchLink>; Leibniz- Institut für Analytische Wissenschaften -ISAS- e.V., Dortmund 44139, Germany.<br /><searchLink fieldCode="AU" term="%22Innes+AM%22">Innes AM</searchLink>; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary T2N 1N4, Canada.<br /><searchLink fieldCode="AU" term="%22Zheng+B%22">Zheng B</searchLink>; Nanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing 210008, China.<br /><searchLink fieldCode="AU" term="%22Julia+Suh+DS%22">Julia Suh DS</searchLink>; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.<br /><searchLink fieldCode="AU" term="%22Knopp+C%22">Knopp C</searchLink>; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.<br /><searchLink fieldCode="AU" term="%22Lausberg+E%22">Lausberg E</searchLink>; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.<br /><searchLink fieldCode="AU" term="%22Krause+J%22">Krause J</searchLink>; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.<br /><searchLink fieldCode="AU" term="%22Zhang+X%22">Zhang X</searchLink>; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.<br /><searchLink fieldCode="AU" term="%22Trapane+P%22">Trapane P</searchLink>; Division of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine-Jacksonville, Jacksonville, FL 32209, USA.<br /><searchLink fieldCode="AU" term="%22Carroll+R%22">Carroll R</searchLink>; Division of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine-Jacksonville, Jacksonville, FL 32209, USA.<br /><searchLink fieldCode="AU" term="%22McClatchey+M%22">McClatchey M</searchLink>; Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK.; Division of Cancer and Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.<br /><searchLink fieldCode="AU" term="%22Fry+AE%22">Fry AE</searchLink>; Division of Cancer and Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK.<br /><searchLink fieldCode="AU" term="%22Wang+L%22">Wang L</searchLink>; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.<br /><searchLink fieldCode="AU" term="%22Giesselmann+S%22">Giesselmann S</searchLink>; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.<br /><searchLink fieldCode="AU" term="%22Hoang+H%22">Hoang H</searchLink>; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.<br /><searchLink fieldCode="AU" term="%22Baldridge+D%22">Baldridge D</searchLink>; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.<br /><searchLink fieldCode="AU" term="%22Silverman+GA%22">Silverman GA</searchLink>; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.<br /><searchLink fieldCode="AU" term="%22Radio+FC%22">Radio FC</searchLink>; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy.<br /><searchLink fieldCode="AU" term="%22Bertini+E%22">Bertini E</searchLink>; Neuromuscular Disorders, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy.<br /><searchLink fieldCode="AU" term="%22Ciolfi+A%22">Ciolfi A</searchLink>; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy.<br /><searchLink fieldCode="AU" term="%22Blood+KA%22">Blood KA</searchLink>; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 2A1, Canada.<br /><searchLink fieldCode="AU" term="%22de+Sainte+Agathe+JM%22">de Sainte Agathe JM</searchLink>; Department of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne University, Paris 75005, France.; Laboratoire de Médecine Génomique Sorbonne Université, LBM SeqOIA, Paris 75014, France.<br /><searchLink fieldCode="AU" term="%22Charles+P%22">Charles P</searchLink>; Department of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne University, Paris 75005, France.<br /><searchLink fieldCode="AU" term="%22Bergant+G%22">Bergant G</searchLink>; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana 1000, Slovenia.<br /><searchLink fieldCode="AU" term="%22Čuturilo+G%22">Čuturilo G</searchLink>; Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia, and University Children's Hospital, 11000 Belgrade, Serbia.<br /><searchLink fieldCode="AU" term="%22Peterlin+B%22">Peterlin B</searchLink>; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana 1000, Slovenia.<br /><searchLink fieldCode="AU" term="%22Diderich+K%22">Diderich K</searchLink>; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GD, Netherlands.<br /><searchLink fieldCode="AU" term="%22Streff+H%22">Streff H</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Robak+L%22">Robak L</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Oegema+R%22">Oegema R</searchLink>; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht 3584 CX, Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Binsbergen+E%22">van Binsbergen E</searchLink>; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht 3584 CX, Netherlands.<br /><searchLink fieldCode="AU" term="%22Herriges+J%22">Herriges J</searchLink>; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO 64108, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA.<br /><searchLink fieldCode="AU" term="%22Saunders+CJ%22">Saunders CJ</searchLink>; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO 64108, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA.; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO 64108, USA.<br /><searchLink fieldCode="AU" term="%22Maier+A%22">Maier A</searchLink>; Department of Neurology, University Hospital, RWTH Aachen University, Aachen 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.<br /><searchLink fieldCode="AU" term="%22Wolking+S%22">Wolking S</searchLink>; Department of Epileptology and Neurology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany.<br /><searchLink fieldCode="AU" term="%22Weber+Y%22">Weber Y</searchLink>; Department of Epileptology and Neurology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany.<br /><searchLink fieldCode="AU" term="%22Lochmüller+H%22">Lochmüller H</searchLink>; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.<br /><searchLink fieldCode="AU" term="%22Meyer+S%22">Meyer S</searchLink>; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.<br /><searchLink fieldCode="AU" term="%22Aleman+A%22">Aleman A</searchLink>; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.<br /><searchLink fieldCode="AU" term="%22Polavarapu+K%22">Polavarapu K</searchLink>; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Department of Neurology, National Institute of Mental Health and Neuro Sciences, Bangalore 560030, India.<br /><searchLink fieldCode="AU" term="%22Nicolas+G%22">Nicolas G</searchLink>; Univ Rouen Normandie, Normandie univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Neurogenetics Diorders, F-76000 Rouen, France.<br /><searchLink fieldCode="AU" term="%22Goldenberg+A%22">Goldenberg A</searchLink>; Univ Rouen Normandie, Normandie univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Neurogenetics Diorders, F-76000 Rouen, France.<br /><searchLink fieldCode="AU" term="%22Guyant+L%22">Guyant L</searchLink>; Univ Rouen Normandie, Normandie univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Neurogenetics Diorders, F-76000 Rouen, France.<br /><searchLink fieldCode="AU" term="%22Pope+K%22">Pope K</searchLink>; University of South Florida, College of Public Health, Tampa, FL 33612, USA.; Nemours Children's Health, Department of Pediatrics, Division of Genetics, Orlando, FL 32827, USA.<br /><searchLink fieldCode="AU" term="%22Hehmeyer+KN%22">Hehmeyer KN</searchLink>; Nemours Children's Health, Department of Pediatrics, Division of Genetics, Orlando, FL 32827, USA.<br /><searchLink fieldCode="AU" term="%22Monaghan+KG%22">Monaghan KG</searchLink>; GeneDx, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Quade+A%22">Quade A</searchLink>; Division of Pediatric Neurology and Social Pediatrics, Department of Pediatrics, University Hospital RWTH Aachen, Aachen 52074, Germany.<br /><searchLink fieldCode="AU" term="%22Smol+T%22">Smol T</searchLink>; Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille 59000, France.<br /><searchLink fieldCode="AU" term="%22Caumes+R%22">Caumes R</searchLink>; Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille 59000, France.<br /><searchLink fieldCode="AU" term="%22Duerinckx+S%22">Duerinckx S</searchLink>; Department of Pediatric Neurology, Hôpital Universitaire de Bruxelles, Hôpital Erasme, Université Libre de Bruxelles, Brussels 1070, Belgium.<br /><searchLink fieldCode="AU" term="%22Depondt+C%22">Depondt C</searchLink>; Department of Neurology, Hôpital Universitaire de Bruxelles, Hôpital Erasme, Université Libre de Bruxelles, Brussels 1070, Belgium.<br /><searchLink fieldCode="AU" term="%22Van+Paesschen+W%22">Van Paesschen W</searchLink>; Laboratory for Epilepsy Research, KU Leuven, Leuven 3000, Belgium.; Department of Neurology, University Hospitals Leuven, Leuven 3000, Belgium.<br /><searchLink fieldCode="AU" term="%22Rieubland+C%22">Rieubland C</searchLink>; Department of Medical Genetics, Central Institute of the Hospitals, Hospital of the Valais, Sion 1951, Switzerland.<br /><searchLink fieldCode="AU" term="%22Poloni+C%22">Poloni C</searchLink>; Department of Medical Genetics, Central Institute of the Hospitals, Hospital of the Valais, Sion 1951, Switzerland.<br /><searchLink fieldCode="AU" term="%22Guipponi+M%22">Guipponi M</searchLink>; Department of Genetic Medicine, University Hospitals of Geneva and University of Geneva Medical Faculty, Geneva 1205, Switzerland.<br /><searchLink fieldCode="AU" term="%22Arcioni+S%22">Arcioni S</searchLink>; Department of Medical Genetics, Central Institute of the Hospitals, Hospital of the Valais, Sion 1951, Switzerland.; Division of Medical Genetics, Central Institute of Hospitals, Valais Hospital, Sion 1951, Switzerland.<br /><searchLink fieldCode="AU" term="%22Meuwissen+M%22">Meuwissen M</searchLink>; Center of Medical Genetics, Antwerp University Hospital/ University of Antwerp, Edegem 2650, Belgium.<br /><searchLink fieldCode="AU" term="%22Jansen+AC%22">Jansen AC</searchLink>; Department of Pediatrics, Division of Child Neurology, Antwerp University Hospital, University of Antwerp, Edegem 2650, Belgium.<br /><searchLink fieldCode="AU" term="%22Rosenblum+J%22">Rosenblum J</searchLink>; Center of Medical Genetics, Antwerp University Hospital/ University of Antwerp, Edegem 2650, Belgium.<br /><searchLink fieldCode="AU" term="%22Haack+TB%22">Haack TB</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.<br /><searchLink fieldCode="AU" term="%22Bertrand+M%22">Bertrand M</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.<br /><searchLink fieldCode="AU" term="%22Gerstner+L%22">Gerstner L</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.<br /><searchLink fieldCode="AU" term="%22Magg+J%22">Magg J</searchLink>; Department of Neuropediatrics, Developmental Neurology, Social Pediatrics, University Children's Hospital, University of Tübingen, Tübingen 72076, Germany.<br /><searchLink fieldCode="AU" term="%22Riess+O%22">Riess O</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.<br /><searchLink fieldCode="AU" term="%22Schulz+JB%22">Schulz JB</searchLink>; Department of Neurology, University Hospital, RWTH Aachen University, Aachen 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.<br /><searchLink fieldCode="AU" term="%22Wagner+N%22">Wagner N</searchLink>; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.; Department of Pediatrics, University Hospital RWTH Aachen, Aachen 52074, Germany.<br /><searchLink fieldCode="AU" term="%22Wiesmann+M%22">Wiesmann M</searchLink>; Department for Diagnostic and Interventional Neuroradiology, RWTH Aachen University Hospital, Aachen 52074, Germany.<br /><searchLink fieldCode="AU" term="%22Weis+J%22">Weis J</searchLink>; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.<br /><searchLink fieldCode="AU" term="%22Eggermann+T%22">Eggermann T</searchLink>; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.<br /><searchLink fieldCode="AU" term="%22Begemann+M%22">Begemann M</searchLink>; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.<br /><searchLink fieldCode="AU" term="%22Roos+A%22">Roos A</searchLink>; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Department for Pediatric Neurology, University Medicine Essen, Duisburg-Essen University, 45147 Essen, Germany.; Institute of Neurology, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, 40225 Düsseldorf, Germany.<br /><searchLink fieldCode="AU" term="%22Häusler+M%22">Häusler M</searchLink>; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.; Division of Pediatric Neurology and Social Pediatrics, Department of Pediatrics, University Hospital RWTH Aachen, Aachen 52074, Germany.<br /><searchLink fieldCode="AU" term="%22Schedl+T%22">Schedl T</searchLink>; Department of Genetics, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.<br /><searchLink fieldCode="AU" term="%22Tartaglia+M%22">Tartaglia M</searchLink>; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy.<br /><searchLink fieldCode="AU" term="%22Bremer+J%22">Bremer J</searchLink>; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.<br /><searchLink fieldCode="AU" term="%22Pak+SC%22">Pak SC</searchLink>; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.<br /><searchLink fieldCode="AU" term="%22Frydman+J%22">Frydman J</searchLink>; Department of Biology, Stanford University, Stanford, CA 94305, USA.<br /><searchLink fieldCode="AU" term="%22Elbracht+M%22">Elbracht M</searchLink>; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.<br /><searchLink fieldCode="AU" term="%22Kurth+I%22">Kurth I</searchLink>; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.
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  Data: <searchLink fieldCode="JN" term="%220404511%22">Science (New York, N.Y.)</searchLink> [Science] 2024 Nov; Vol. 386 (6721), pp. 516-525. <i>Date of Electronic Publication: </i>2024 Oct 31.
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