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ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.

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Title: ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Authors: Mattison KA; Genetics and Molecular Biology Graduate Program, Graduate Division of Biological and Biomedical Sciences, Laney Graduate School, Emory University, Atlanta, GA, USA.; Department of Human Genetics, Emory University, Atlanta, GA, USA., Tossing G; Department of Neuroscience, University of Montreal, Montreal, QC, Canada., Mulroe F; Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Center, Manchester, UK., Simmons C; Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Center, Manchester, UK., Butler KM; Department of Human Genetics, Emory University, Atlanta, GA, USA.; Greenwood Genetics Center, Greenwood, SC, USA., Schreiber A; Center for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, OH, USA., Alsadah A; Center for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, OH, USA., Neilson DE; Division of Genetics and Metabolism, Department of Child Health, The University of Arizona College of Medicine, Phoenix, AZ, USA.; Department of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix Children's Medical Group, Phoenix, AZ, USA., Naess K; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden., Wedell A; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Deparment of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden., Wredenberg A; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden., Sorlin A; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg., McCann E; Liverpool Center for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK., Burghel GJ; Genomic Diagnostic Laboratory, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Menendez B; UI Health, Chicago, IL, USA., Hoganson GE; Division of Genetics, Department of Pediatrics, University of Illinois College of Medicine, Chicago, IL, USA., Botto LD; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA., Filloux FM; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA., Aledo-Serrano Á; Genetic Epilepsy Program, Department of Neurology, Ruber International Hospital, Madrid, Spain., Gil-Nagel A; Genetic Epilepsy Program, Department of Neurology, Ruber International Hospital, Madrid, Spain., Tatton-Brown K; Medical Genetics, St. George's University Hospitals NHS Foundation Trust and Institute for Molecular and Cell Sciences, St. George's, University of London, London, UK., Verbeek NE; Department of Genetics, University Medical Center Utrecht, Member of the ERN EpiCARE, Utrecht, The Netherlands., van der Zwaag B; Department of Genetics, University Medical Center Utrecht, Member of the ERN EpiCARE, Utrecht, The Netherlands., Aleck KA; Division of Genetics and Metabolism, Department of Child Health, The University of Arizona College of Medicine, Phoenix, AZ, USA.; Department of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix Children's Medical Group, Phoenix, AZ, USA., Fazenbaker AC; Department of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix Children's Medical Group, Phoenix, AZ, USA., Balciuniene J; Divison of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; PerkinElmer Genomics, Pittsburgh, PA, USA., Dubbs HA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Marsh ED; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Garber K; Department of Human Genetics, Emory University, Atlanta, GA, USA., Ek J; Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark., Duno M; Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark., Hoei-Hansen CE; Department of Pediatrics, University Hospital of Copenhagen, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Deardorff MA; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Department of Pediatrics, Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Raca G; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Quindipan C; Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA., van Hirtum-Das M; Department of Pediatrics, Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Breckpot J; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Hammer TB; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Fildelfia, Dianalund, Denmark., Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Fildelfia, Dianalund, Denmark.; Insititue for Regional Health Services Research, University of Southern Denmark, Odense, Denmark., Whitney A; Pediatric Neurology, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Douglas AGL; Wessex Clinical Genetics Service, University of Southampton, Southampton, UK.; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Kharbanda M; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Brunetti-Pierri N; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Department of Translational Medicine, Federico II University of Naples, Naples, Italy., Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., May HJ; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Tao JX; Department of Neurology, University of Chicago, Chicago, IL, USA., Argilli E; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Pediatrics Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA., Sherr EH; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Pediatrics Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA., Dobyns WB; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA., Baines RA; Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Center, Manchester, UK., Warwicker J; School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Institute of Biotechnology, University of Manchester, Manchester, UK., Parker JA; Department of Neuroscience, University of Montreal, Montreal, QC, Canada., Banka S; Division of Evolution, Infection, and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Campeau PM; Department of Pediatrics, University of Montreal, Montreal, QC, Canada., Escayg A; Department of Human Genetics, Emory University, Atlanta, GA, USA.
Corporate Authors: Genomics England Research Consortium
Source: Brain : a journal of neurology [Brain] 2023 Apr 19; Vol. 146 (4), pp. 1357-1372.
Publication Type: Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Database: MEDLINE Ultimate
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Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 36074901
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PubType: Academic Journal
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  Data: ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
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  Data: <searchLink fieldCode="AU" term="%22Mattison+KA%22">Mattison KA</searchLink>; Genetics and Molecular Biology Graduate Program, Graduate Division of Biological and Biomedical Sciences, Laney Graduate School, Emory University, Atlanta, GA, USA.; Department of Human Genetics, Emory University, Atlanta, GA, USA.<br /><searchLink fieldCode="AU" term="%22Tossing+G%22">Tossing G</searchLink>; Department of Neuroscience, University of Montreal, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Mulroe+F%22">Mulroe F</searchLink>; Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Center, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Simmons+C%22">Simmons C</searchLink>; Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Center, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Butler+KM%22">Butler KM</searchLink>; 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Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Deparment of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Wredenberg+A%22">Wredenberg A</searchLink>; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Sorlin+A%22">Sorlin A</searchLink>; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg.<br /><searchLink fieldCode="AU" term="%22McCann+E%22">McCann E</searchLink>; Liverpool Center for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK.<br /><searchLink fieldCode="AU" term="%22Burghel+GJ%22">Burghel GJ</searchLink>; Genomic Diagnostic Laboratory, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Menendez+B%22">Menendez B</searchLink>; UI Health, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Hoganson+GE%22">Hoganson GE</searchLink>; Division of Genetics, Department of Pediatrics, University of Illinois College of Medicine, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Botto+LD%22">Botto LD</searchLink>; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.<br /><searchLink fieldCode="AU" term="%22Filloux+FM%22">Filloux FM</searchLink>; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.<br /><searchLink fieldCode="AU" term="%22Aledo-Serrano+Á%22">Aledo-Serrano Á</searchLink>; Genetic Epilepsy Program, Department of Neurology, Ruber International Hospital, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Gil-Nagel+A%22">Gil-Nagel A</searchLink>; Genetic Epilepsy Program, Department of Neurology, Ruber International Hospital, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Tatton-Brown+K%22">Tatton-Brown K</searchLink>; Medical Genetics, St. George's University Hospitals NHS Foundation Trust and Institute for Molecular and Cell Sciences, St. George's, University of London, London, UK.<br /><searchLink fieldCode="AU" term="%22Verbeek+NE%22">Verbeek NE</searchLink>; Department of Genetics, University Medical Center Utrecht, Member of the ERN EpiCARE, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+der+Zwaag+B%22">van der Zwaag B</searchLink>; Department of Genetics, University Medical Center Utrecht, Member of the ERN EpiCARE, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Aleck+KA%22">Aleck KA</searchLink>; Division of Genetics and Metabolism, Department of Child Health, The University of Arizona College of Medicine, Phoenix, AZ, USA.; Department of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix Children's Medical Group, Phoenix, AZ, USA.<br /><searchLink fieldCode="AU" term="%22Fazenbaker+AC%22">Fazenbaker AC</searchLink>; Department of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix Children's Medical Group, Phoenix, AZ, USA.<br /><searchLink fieldCode="AU" term="%22Balciuniene+J%22">Balciuniene J</searchLink>; Divison of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; PerkinElmer Genomics, Pittsburgh, PA, USA.<br /><searchLink fieldCode="AU" term="%22Dubbs+HA%22">Dubbs HA</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Marsh+ED%22">Marsh ED</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Garber+K%22">Garber K</searchLink>; Department of Human Genetics, Emory University, Atlanta, GA, USA.<br /><searchLink fieldCode="AU" term="%22Ek+J%22">Ek J</searchLink>; Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Duno+M%22">Duno M</searchLink>; Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Hoei-Hansen+CE%22">Hoei-Hansen CE</searchLink>; Department of Pediatrics, University Hospital of Copenhagen, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Deardorff+MA%22">Deardorff MA</searchLink>; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Department of Pediatrics, Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Raca+G%22">Raca G</searchLink>; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Quindipan+C%22">Quindipan C</searchLink>; Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22van+Hirtum-Das+M%22">van Hirtum-Das M</searchLink>; Department of Pediatrics, Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Breckpot+J%22">Breckpot J</searchLink>; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Hammer+TB%22">Hammer TB</searchLink>; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Fildelfia, Dianalund, Denmark.<br /><searchLink fieldCode="AU" term="%22Møller+RS%22">Møller RS</searchLink>; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Fildelfia, Dianalund, Denmark.; Insititue for Regional Health Services Research, University of Southern Denmark, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Whitney+A%22">Whitney A</searchLink>; Pediatric Neurology, University Hospital Southampton NHS Foundation Trust, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Douglas+AGL%22">Douglas AGL</searchLink>; Wessex Clinical Genetics Service, University of Southampton, Southampton, UK.; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Kharbanda+M%22">Kharbanda M</searchLink>; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Brunetti-Pierri+N%22">Brunetti-Pierri N</searchLink>; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Department of Translational Medicine, Federico II University of Naples, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Morleo+M%22">Morleo M</searchLink>; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Nigro+V%22">Nigro V</searchLink>; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.<br /><searchLink fieldCode="AU" term="%22May+HJ%22">May HJ</searchLink>; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Tao+JX%22">Tao JX</searchLink>; Department of Neurology, University of Chicago, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Argilli+E%22">Argilli E</searchLink>; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Pediatrics Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Sherr+EH%22">Sherr EH</searchLink>; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Pediatrics Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Dobyns+WB%22">Dobyns WB</searchLink>; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA.<br /><searchLink fieldCode="AU" term="%22Baines+RA%22">Baines RA</searchLink>; 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Department of Human Genetics, Emory University, Atlanta, GA, USA.
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            NameFull: Kharbanda M
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          Name:
            NameFull: Brunetti-Pierri N
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            NameFull: Morleo M
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            NameFull: Nigro V
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          Name:
            NameFull: May HJ
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          Name:
            NameFull: Tao JX
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          Name:
            NameFull: Argilli E
      – PersonEntity:
          Name:
            NameFull: Sherr EH
      – PersonEntity:
          Name:
            NameFull: Dobyns WB
      – PersonEntity:
          Name:
            NameFull: Baines RA
      – PersonEntity:
          Name:
            NameFull: Warwicker J
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          Name:
            NameFull: Parker JA
      – PersonEntity:
          Name:
            NameFull: Banka S
      – PersonEntity:
          Name:
            NameFull: Campeau PM
      – PersonEntity:
          Name:
            NameFull: Escayg A
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 19
              M: 04
              Text: 2023 Apr 19
              Type: published
              Y: 2023
          Identifiers:
            – Type: issn-electronic
              Value: 1460-2156
          Numbering:
            – Type: volume
              Value: 146
            – Type: issue
              Value: 4
          Titles:
            – TitleFull: Brain : a journal of neurology
              Type: main
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