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A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability.

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Title: A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability.
Authors: Yousaf H; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan., Rehmat S; Center for Regenerative Medicine and Stem Cell Research (CRM), The Aga Khan University, Karachi, Pakistan., Jameel M; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.; Center for Regenerative Medicine and Stem Cell Research (CRM), The Aga Khan University, Karachi, Pakistan., Ibrahim R; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan., Hashmi SN; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan., Makhdoom EUH; Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad, Pakistan., Iwaszkiewicz J; Molecular Modeling Group, SIB Swiss Institute of Bioinformatics, Lausanne, Switzerland., Saadi SM; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan., Tariq M; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan., Baig SM; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan., Toft M; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.; Department of Neurology, Oslo University Hospital, Oslo, Norway., Fatima A; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan., Iqbal Z; Department of Neurology, Oslo University Hospital, Oslo, Norway.
Source: Clinical genetics [Clin Genet] 2023 Sep; Vol. 104 (3), pp. 324-333. Date of Electronic Publication: 2023 Jun 15.
Publication Type: Journal Article
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability.
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  Data: <searchLink fieldCode="AU" term="%22Yousaf+H%22">Yousaf H</searchLink>; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.<br /><searchLink fieldCode="AU" term="%22Rehmat+S%22">Rehmat S</searchLink>; Center for Regenerative Medicine and Stem Cell Research (CRM), The Aga Khan University, Karachi, Pakistan.<br /><searchLink fieldCode="AU" term="%22Jameel+M%22">Jameel M</searchLink>; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.; Center for Regenerative Medicine and Stem Cell Research (CRM), The Aga Khan University, Karachi, Pakistan.<br /><searchLink fieldCode="AU" term="%22Ibrahim+R%22">Ibrahim R</searchLink>; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan.<br /><searchLink fieldCode="AU" term="%22Hashmi+SN%22">Hashmi SN</searchLink>; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan.<br /><searchLink fieldCode="AU" term="%22Makhdoom+EUH%22">Makhdoom EUH</searchLink>; Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad, Pakistan.<br /><searchLink fieldCode="AU" term="%22Iwaszkiewicz+J%22">Iwaszkiewicz J</searchLink>; Molecular Modeling Group, SIB Swiss Institute of Bioinformatics, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Saadi+SM%22">Saadi SM</searchLink>; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.<br /><searchLink fieldCode="AU" term="%22Tariq+M%22">Tariq M</searchLink>; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.<br /><searchLink fieldCode="AU" term="%22Baig+SM%22">Baig SM</searchLink>; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan.<br /><searchLink fieldCode="AU" term="%22Toft+M%22">Toft M</searchLink>; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.; Department of Neurology, Oslo University Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Fatima+A%22">Fatima A</searchLink>; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan.<br /><searchLink fieldCode="AU" term="%22Iqbal+Z%22">Iqbal Z</searchLink>; Department of Neurology, Oslo University Hospital, Oslo, Norway.
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2023 Sep; Vol. 104 (3), pp. 324-333. <i>Date of Electronic Publication: </i>2023 Jun 15.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Munksgaard%22">Munksgaard </searchLink><i>Country of Publication: </i>Denmark <i>NLM ID: </i>0253664 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1399-0004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200099163%22">00099163 </searchLink><i>NLM ISO Abbreviation: </i>Clin Genet <i>Subsets: </i>MEDLINE
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              Text: 2023 Sep
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