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Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.

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Title: Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
Authors: Keehan L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Haviland I; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Gofin Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Swanson LC; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., El Achkar CM; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Schreiber J; Division of Epilepsy, Neurophysiology, and Critical Care Neurology, Children's National Hospital, Washington, District of Columbia, USA., VanNoy GE; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., O'Heir E; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., O'Donnell-Luria A; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Lewis RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Cullen Eye Institute, Department of Ophthalmology, Baylor College of Medicine, Houston, Texas, USA., Magoulas P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Tran A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Azamian MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Chao HT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Departments of Neuroscience and Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA.; McNair Medical Institute at the Robert and Janice McNair Foundation, Houston, Texas, USA., Pham L; The Meyer Center for Developmental Pediatrics, Texas Children's Hospital, Houston, Texas, USA., Samaco RC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA., Elsea S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Thorpe E; Illumina, Inc., San-Diego, California, USA., Kesari A; Illumina, Inc., San-Diego, California, USA., Perry D; Illumina, Inc., San-Diego, California, USA., Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Olson HE; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.
Corporate Authors: Undiagnosed Diseases Network
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Dec; Vol. 188 (12), pp. 3516-3524. Date of Electronic Publication: 2022 Aug 07.
Publication Type: Case Reports; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural; Journal Article
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: Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
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Division of Epilepsy, Neurophysiology, and Critical Care Neurology, Children's National Hospital, Washington, District of Columbia, USA.<br /><searchLink fieldCode="AU" term="%22VanNoy+GE%22">VanNoy GE</searchLink>; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22O'Heir+E%22">O'Heir E</searchLink>; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22O'Donnell-Luria+A%22">O'Donnell-Luria A</searchLink>; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Lewis+RA%22">Lewis RA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Cullen Eye Institute, Department of Ophthalmology, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Magoulas+P%22">Magoulas P</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Tran+A%22">Tran A</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Azamian+MS%22">Azamian MS</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Chao+HT%22">Chao HT</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Departments of Neuroscience and Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA.; McNair Medical Institute at the Robert and Janice McNair Foundation, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Pham+L%22">Pham L</searchLink>; The Meyer Center for Developmental Pediatrics, Texas Children's Hospital, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Samaco+RC%22">Samaco RC</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Elsea+S%22">Elsea S</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Thorpe+E%22">Thorpe E</searchLink>; Illumina, Inc., San-Diego, California, USA.<br /><searchLink fieldCode="AU" term="%22Kesari+A%22">Kesari A</searchLink>; Illumina, Inc., San-Diego, California, USA.<br /><searchLink fieldCode="AU" term="%22Perry+D%22">Perry D</searchLink>; Illumina, Inc., San-Diego, California, USA.<br /><searchLink fieldCode="AU" term="%22Lee+B%22">Lee B</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Lalani+SR%22">Lalani SR</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Rosenfeld+JA%22">Rosenfeld JA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Olson+HE%22">Olson HE</searchLink>; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Burrage+LC%22">Burrage LC</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, 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] 2022 Dec; Vol. 188 (12), pp. 3516-3524. <i>Date of Electronic Publication: </i>2022 Aug 07.
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