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. |
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| 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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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.63843 |
