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. |
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| 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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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.62940 |
