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Clinical and molecular characteristics of a novel rare de novo variant in PPP2CA in a patient with a developmental disorder, autism, and epilepsy.

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Title: Clinical and molecular characteristics of a novel rare de novo variant in PPP2CA in a patient with a developmental disorder, autism, and epilepsy.
Authors: Verbinnen I; Laboratory of Protein Phosphorylation and Proteomics, Department of Cellular and Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium.; KU Leuven Brain Institute (LBI), Leuven, Belgium., Procknow SS; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, St. Louis, MO, United States., Lenaerts L; Laboratory of Protein Phosphorylation and Proteomics, Department of Cellular and Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium., Reynhout S; Laboratory of Protein Phosphorylation and Proteomics, Department of Cellular and Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium.; KU Leuven Brain Institute (LBI), Leuven, Belgium., Mehregan A; Laboratory of Structural Neurobiology, Department of Cellular and Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium., Ulens C; Laboratory of Structural Neurobiology, Department of Cellular and Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium., Janssens V; Laboratory of Protein Phosphorylation and Proteomics, Department of Cellular and Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium.; KU Leuven Brain Institute (LBI), Leuven, Belgium., King KA; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, St. Louis, MO, United States.
Source: Frontiers in cell and developmental biology [Front Cell Dev Biol] 2022 Nov 30; Vol. 10, pp. 1059938. Date of Electronic Publication: 2022 Nov 30 (Print Publication: 2022).
Publication Type: Journal Article
Journal Info: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101630250 Publication Model: eCollection Cited Medium: Print ISSN: 2296-634X (Print) Linking ISSN: 2296634X NLM ISO Abbreviation: Front Cell Dev Biol Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Clinical and molecular characteristics of a novel rare de novo variant in PPP2CA in a patient with a developmental disorder, autism, and epilepsy.
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  Data: <searchLink fieldCode="AU" term="%22Verbinnen+I%22">Verbinnen I</searchLink>; Laboratory of Protein Phosphorylation and Proteomics, Department of Cellular and Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium.; KU Leuven Brain Institute (LBI), Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Procknow+SS%22">Procknow SS</searchLink>; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, St. Louis, MO, United States.<br /><searchLink fieldCode="AU" term="%22Lenaerts+L%22">Lenaerts L</searchLink>; Laboratory of Protein Phosphorylation and Proteomics, Department of Cellular and Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Reynhout+S%22">Reynhout S</searchLink>; Laboratory of Protein Phosphorylation and Proteomics, Department of Cellular and Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium.; KU Leuven Brain Institute (LBI), Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Mehregan+A%22">Mehregan A</searchLink>; Laboratory of Structural Neurobiology, Department of Cellular and Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Ulens+C%22">Ulens C</searchLink>; Laboratory of Structural Neurobiology, Department of Cellular and Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Janssens+V%22">Janssens V</searchLink>; Laboratory of Protein Phosphorylation and Proteomics, Department of Cellular and Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium.; KU Leuven Brain Institute (LBI), Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22King+KA%22">King KA</searchLink>; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, St. Louis, MO, United States.
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  Data: <searchLink fieldCode="JN" term="%22101630250%22">Frontiers in cell and developmental biology</searchLink> [Front Cell Dev Biol] 2022 Nov 30; Vol. 10, pp. 1059938. <i>Date of Electronic Publication: </i>2022 Nov 30 (<i>Print Publication: </i>2022).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Media+S%2EA%22">Frontiers Media S.A </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101630250 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2296-634X (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%222296634X%22">2296634X </searchLink><i>NLM ISO Abbreviation: </i>Front Cell Dev Biol <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.3389/fcell.2022.1059938
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