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Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder.

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Title: Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder.
Authors: Haviland I; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Hector RD; Simons Initiative for the Developing Brain & Patrick Wild Centre, Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, UK., Swanson LC; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Verran AS; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA., Sherrill E; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA., Frazier Z; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Denny AM; Division of Pediatric Neurology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada., Lucash J; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Zhang B; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Dubbs HA; Division of Child Neurology, Children's Hospital of Philadelphia, Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Marsh ED; Division of Child Neurology, Children's Hospital of Philadelphia, Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Weisenberg JL; Department of Pediatric Neurology, Washington University School of Medicine, St. Louis, Missouri, USA., Leonard H; Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia., Crippa M; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy., Cogliati F; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy., Russo S; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy., Suter B; Division of Child Neurology, Texas Children's Hospital, Departments of Neurology and Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Rajaraman R; Division of Pediatric Neurology, UCLA Mattel Children's Hospital, Los Angeles, California, USA., Percy AK; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Schreiber JM; Division of Epilepsy, Neurophysiology, and Critical Care Neurology, Children's National Hospital, Washington, DC, USA., Demarest S; Department of Pediatrics and Neurology, Precision Medicine Institute, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, Colorado, USA., Benke TA; Department of Pediatrics, Pharmacology and Neurology, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, Colorado, USA., Chopra M; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Yu TW; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA., Olson HE; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, Massachusetts, USA.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Jan; Vol. 197 (1), pp. e63843. Date of Electronic Publication: 2024 Aug 28.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder.
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  Data: <searchLink fieldCode="AU" term="%22Haviland+I%22">Haviland I</searchLink>; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Hector+RD%22">Hector RD</searchLink>; Simons Initiative for the Developing Brain & Patrick Wild Centre, Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, UK.<br /><searchLink fieldCode="AU" term="%22Swanson+LC%22">Swanson LC</searchLink>; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Verran+AS%22">Verran AS</searchLink>; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Sherrill+E%22">Sherrill E</searchLink>; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Frazier+Z%22">Frazier Z</searchLink>; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Denny+AM%22">Denny AM</searchLink>; Division of Pediatric Neurology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada.<br /><searchLink fieldCode="AU" term="%22Lucash+J%22">Lucash J</searchLink>; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Zhang+B%22">Zhang B</searchLink>; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Dubbs+HA%22">Dubbs HA</searchLink>; Division of Child Neurology, Children's Hospital of Philadelphia, Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Marsh+ED%22">Marsh ED</searchLink>; Division of Child Neurology, Children's Hospital of Philadelphia, Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Weisenberg+JL%22">Weisenberg JL</searchLink>; Department of Pediatric Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.<br /><searchLink fieldCode="AU" term="%22Leonard+H%22">Leonard H</searchLink>; Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Crippa+M%22">Crippa M</searchLink>; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Cogliati+F%22">Cogliati F</searchLink>; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Russo+S%22">Russo S</searchLink>; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Suter+B%22">Suter B</searchLink>; Division of Child Neurology, Texas Children's Hospital, Departments of Neurology and Pediatrics, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Rajaraman+R%22">Rajaraman R</searchLink>; Division of Pediatric Neurology, UCLA Mattel Children's Hospital, Los Angeles, California, USA.<br /><searchLink fieldCode="AU" term="%22Percy+AK%22">Percy AK</searchLink>; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA.<br /><searchLink fieldCode="AU" term="%22Schreiber+JM%22">Schreiber JM</searchLink>; Division of Epilepsy, Neurophysiology, and Critical Care Neurology, Children's National Hospital, Washington, DC, USA.<br /><searchLink fieldCode="AU" term="%22Demarest+S%22">Demarest S</searchLink>; Department of Pediatrics and Neurology, Precision Medicine Institute, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, Colorado, USA.<br /><searchLink fieldCode="AU" term="%22Benke+TA%22">Benke TA</searchLink>; Department of Pediatrics, Pharmacology and Neurology, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, Colorado, USA.<br /><searchLink fieldCode="AU" term="%22Chopra+M%22">Chopra M</searchLink>; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Yu+TW%22">Yu TW</searchLink>; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Olson+HE%22">Olson HE</searchLink>; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, Massachusetts, USA.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2025 Jan; Vol. 197 (1), pp. e63843. <i>Date of Electronic Publication: </i>2024 Aug 28.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE
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