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Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL.

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Title: Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL.
Authors: Carbonell E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Stenton SL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Ganesh VS; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA., Ma J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., VanNoy GE; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Pais L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Gaitanis JN; Hasbro Children's Hospital, The Warren Alpert Medical School of Brown University, Providence, RI, USA., O'Leary MC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA USA., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA USA. Electronic address: odonnell@broadinstitute.org.
Source: HGG advances [HGG Adv] 2025 Apr 10; Vol. 6 (2), pp. 100419. Date of Electronic Publication: 2025 Feb 21.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL.
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  Data: <searchLink fieldCode="AU" term="%22Carbonell+E%22">Carbonell E</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Stenton+SL%22">Stenton SL</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Ganesh+VS%22">Ganesh VS</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Ma+J%22">Ma J</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22VanNoy+GE%22">VanNoy GE</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Pais+L%22">Pais L</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Gaitanis+JN%22">Gaitanis JN</searchLink>; Hasbro Children's Hospital, The Warren Alpert Medical School of Brown University, Providence, RI, USA.<br /><searchLink fieldCode="AU" term="%22O'Leary+MC%22">O'Leary MC</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Rehm+HL%22">Rehm HL</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA USA.<br /><searchLink fieldCode="AU" term="%22O'Donnell-Luria+A%22">O'Donnell-Luria A</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA USA. Electronic address: odonnell@broadinstitute.org.
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  Data: <searchLink fieldCode="JN" term="%22101772885%22">HGG advances</searchLink> [HGG Adv] 2025 Apr 10; Vol. 6 (2), pp. 100419. <i>Date of Electronic Publication: </i>2025 Feb 21.
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        Value: 10.1016/j.xhgg.2025.100419
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              Text: 2025 Apr 10
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