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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.

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Title: Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
Authors: Salpietro V; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa 16132, Italy; Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London WC1N 3BG, UK., Malintan NT; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London WC1N 3BG, UK., Llano-Rivas I; Department of Medical Genetics, Hospital Universitario Cruces, Greater Bilbao 48903, Spain., Spaeth CG; Division of Human Genetics, Department of Pediatrics, University of Cincinnati, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229-3026, USA., Efthymiou S; Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London WC1N 3BG, UK; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London WC1N 3BG, UK., Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa 16132, Italy., Vandrovcova J; Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London WC1N 3BG, UK., Cutrupi MC; Division of Human Genetics, Department of the Adult and Developmental Age Human Pathology, University of Messina, Messina 98125, Italy., Chimenz R; Division of Human Genetics, Department of the Adult and Developmental Age Human Pathology, University of Messina, Messina 98125, Italy., David E; Papardo University Hospital, Viale Ferdinando Stagno d'Alcontres, Contrada Papardo, Messina 98158, Italy., Di Rosa G; Division of Child Neurology and Psychiatry, Department of the Adult and Developmental Age Human Pathology, University of Messina, Messina 98125, Italy., Marce-Grau A; Department of Pediatric Neurology, University Hospital Vall d'Hebron, Barcelona 08035, Spain., Raspall-Chaure M; Department of Pediatric Neurology, University Hospital Vall d'Hebron, Barcelona 08035, Spain., Martin-Hernandez E; Unidad de Enfermedades Mitocondriales-Metabólicas Hereditarias, Departamento de Pediatría, Hospital 12 de Octubre, Madrid 28041, Spain., Zara F; Laboratory of Neurogenetics and Neuroscience, G. Gaslini Institute, Genova 16147, Italy., Minetti C; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa 16132, Italy., Bello OD; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London WC1N 3BG, UK., De Zorzi R; Center of Excellence in Biocrystallography, Department of Chemical and Pharmaceutical Sciences, University of Trieste, Trieste 34127, Italy., Fortuna S; Department of Chemical and Pharmaceutical Sciences, University of Trieste, Trieste 34127, Italy., Dauber A; Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229-3026, USA., Alkhawaja M; Prince Hamzah Hospital, Ministry of Health, Amman 11181, Jordan., Sultan T; Department of Pediatric Neurology, Institute of Child Health and The Children's Hospital Lahore, 381-D/2, Lahore 54600, Pakistan., Mankad K; Department of Neuroradiology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK., Vitobello A; Unité Fonctionnelle Innovation en Diagnostic Genomique des Maladies Rares, Center Hospitalier Universitaire Dijon Bourgogne, Dijon 21079, France; Inserm, UMR 1231, Genetique des Anomalies du Development, Université de Bourgogne, Dijon 21079, France., Thomas Q; Inserm, UMR 1231, Genetique des Anomalies du Development, Université de Bourgogne, Dijon 21079, France., Mau-Them FT; Unité Fonctionnelle Innovation en Diagnostic Genomique des Maladies Rares, Center Hospitalier Universitaire Dijon Bourgogne, Dijon 21079, France; Inserm, UMR 1231, Genetique des Anomalies du Development, Université de Bourgogne, Dijon 21079, France., Faivre L; Inserm, UMR 1231, Genetique des Anomalies du Development, Université de Bourgogne, Dijon 21079, France; Center de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Dijon 21079, France., Martinez-Azorin F; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid 28041, Spain., Prada CE; Division of Human Genetics, Department of Pediatrics, University of Cincinnati, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229-3026, USA., Macaya A; Department of Pediatric Neurology, University Hospital Vall d'Hebron, Barcelona 08035, Spain., Kullmann DM; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London WC1N 3BG, UK., Rothman JE; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London WC1N 3BG, UK; Department of Cell Biology, Yale University School of Medicine, New Haven, CT 06520, USA., Krishnakumar SS; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London WC1N 3BG, UK; Department of Cell Biology, Yale University School of Medicine, New Haven, CT 06520, USA. Electronic address: s.krishnakumar@ucl.ac.uk., Houlden H; Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London WC1N 3BG, UK. Electronic address: h.houlden@ucl.ac.uk.
Corporate Authors: Deciphering Developmental Disorders Study, SYNAPS Study Group
Source: American journal of human genetics [Am J Hum Genet] 2019 Apr 04; Vol. 104 (4), pp. 721-730. Date of Electronic Publication: 2019 Mar 28.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
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  Data: <searchLink fieldCode="AU" term="%22Salpietro+V%22">Salpietro V</searchLink>; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa 16132, Italy; Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Malintan+NT%22">Malintan NT</searchLink>; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Llano-Rivas+I%22">Llano-Rivas I</searchLink>; Department of Medical Genetics, Hospital Universitario Cruces, Greater Bilbao 48903, Spain.<br /><searchLink fieldCode="AU" term="%22Spaeth+CG%22">Spaeth CG</searchLink>; Division of Human Genetics, Department of Pediatrics, University of Cincinnati, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229-3026, USA.<br /><searchLink fieldCode="AU" term="%22Efthymiou+S%22">Efthymiou S</searchLink>; Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London WC1N 3BG, UK; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Striano+P%22">Striano P</searchLink>; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa 16132, Italy.<br /><searchLink fieldCode="AU" term="%22Vandrovcova+J%22">Vandrovcova J</searchLink>; Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Cutrupi+MC%22">Cutrupi MC</searchLink>; Division of Human Genetics, Department of the Adult and Developmental Age Human Pathology, University of Messina, Messina 98125, Italy.<br /><searchLink fieldCode="AU" term="%22Chimenz+R%22">Chimenz R</searchLink>; Division of Human Genetics, Department of the Adult and Developmental Age Human Pathology, University of Messina, Messina 98125, Italy.<br /><searchLink fieldCode="AU" term="%22David+E%22">David E</searchLink>; Papardo University Hospital, Viale Ferdinando Stagno d'Alcontres, Contrada Papardo, Messina 98158, Italy.<br /><searchLink fieldCode="AU" term="%22Di+Rosa+G%22">Di Rosa G</searchLink>; Division of Child Neurology and Psychiatry, Department of the Adult and Developmental Age Human Pathology, University of Messina, Messina 98125, Italy.<br /><searchLink fieldCode="AU" term="%22Marce-Grau+A%22">Marce-Grau A</searchLink>; Department of Pediatric Neurology, University Hospital Vall d'Hebron, Barcelona 08035, Spain.<br /><searchLink fieldCode="AU" term="%22Raspall-Chaure+M%22">Raspall-Chaure M</searchLink>; Department of Pediatric Neurology, University Hospital Vall d'Hebron, Barcelona 08035, Spain.<br /><searchLink fieldCode="AU" term="%22Martin-Hernandez+E%22">Martin-Hernandez E</searchLink>; Unidad de Enfermedades Mitocondriales-Metabólicas Hereditarias, Departamento de Pediatría, Hospital 12 de Octubre, Madrid 28041, Spain.<br /><searchLink fieldCode="AU" term="%22Zara+F%22">Zara F</searchLink>; Laboratory of Neurogenetics and Neuroscience, G. Gaslini Institute, Genova 16147, Italy.<br /><searchLink fieldCode="AU" term="%22Minetti+C%22">Minetti C</searchLink>; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa 16132, Italy.<br /><searchLink fieldCode="AU" term="%22Bello+OD%22">Bello OD</searchLink>; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22De+Zorzi+R%22">De Zorzi R</searchLink>; Center of Excellence in Biocrystallography, Department of Chemical and Pharmaceutical Sciences, University of Trieste, Trieste 34127, Italy.<br /><searchLink fieldCode="AU" term="%22Fortuna+S%22">Fortuna S</searchLink>; Department of Chemical and Pharmaceutical Sciences, University of Trieste, Trieste 34127, Italy.<br /><searchLink fieldCode="AU" term="%22Dauber+A%22">Dauber A</searchLink>; Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229-3026, USA.<br /><searchLink fieldCode="AU" term="%22Alkhawaja+M%22">Alkhawaja M</searchLink>; Prince Hamzah Hospital, Ministry of Health, Amman 11181, Jordan.<br /><searchLink fieldCode="AU" term="%22Sultan+T%22">Sultan T</searchLink>; Department of Pediatric Neurology, Institute of Child Health and The Children's Hospital Lahore, 381-D/2, Lahore 54600, Pakistan.<br /><searchLink fieldCode="AU" term="%22Mankad+K%22">Mankad K</searchLink>; Department of Neuroradiology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.<br /><searchLink fieldCode="AU" term="%22Vitobello+A%22">Vitobello A</searchLink>; Unité Fonctionnelle Innovation en Diagnostic Genomique des Maladies Rares, Center Hospitalier Universitaire Dijon Bourgogne, Dijon 21079, France; Inserm, UMR 1231, Genetique des Anomalies du Development, Université de Bourgogne, Dijon 21079, France.<br /><searchLink fieldCode="AU" term="%22Thomas+Q%22">Thomas Q</searchLink>; Inserm, UMR 1231, Genetique des Anomalies du Development, Université de Bourgogne, Dijon 21079, France.<br /><searchLink fieldCode="AU" term="%22Mau-Them+FT%22">Mau-Them FT</searchLink>; Unité Fonctionnelle Innovation en Diagnostic Genomique des Maladies Rares, Center Hospitalier Universitaire Dijon Bourgogne, Dijon 21079, France; Inserm, UMR 1231, Genetique des Anomalies du Development, Université de Bourgogne, Dijon 21079, France.<br /><searchLink fieldCode="AU" term="%22Faivre+L%22">Faivre L</searchLink>; Inserm, UMR 1231, Genetique des Anomalies du Development, Université de Bourgogne, Dijon 21079, France; Center de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Dijon 21079, France.<br /><searchLink fieldCode="AU" term="%22Martinez-Azorin+F%22">Martinez-Azorin F</searchLink>; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid 28041, Spain.<br /><searchLink fieldCode="AU" term="%22Prada+CE%22">Prada CE</searchLink>; Division of Human Genetics, Department of Pediatrics, University of Cincinnati, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229-3026, USA.<br /><searchLink fieldCode="AU" term="%22Macaya+A%22">Macaya A</searchLink>; Department of Pediatric Neurology, University Hospital Vall d'Hebron, Barcelona 08035, Spain.<br /><searchLink fieldCode="AU" term="%22Kullmann+DM%22">Kullmann DM</searchLink>; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Rothman+JE%22">Rothman JE</searchLink>; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London WC1N 3BG, UK; Department of Cell Biology, Yale University School of Medicine, New Haven, CT 06520, USA.<br /><searchLink fieldCode="AU" term="%22Krishnakumar+SS%22">Krishnakumar SS</searchLink>; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London WC1N 3BG, UK; Department of Cell Biology, Yale University School of Medicine, New Haven, CT 06520, USA. Electronic address: s.krishnakumar@ucl.ac.uk.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London WC1N 3BG, UK. Electronic address: h.houlden@ucl.ac.uk.
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