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ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Mattison, Kari A; Tossing, Gilles; Mulroe, Fred; Simmons, Callum; Butler, Kameryn M; Schreiber, Alison; Alsadah, Adnan; Neilson, Derek E; Naess, Karin; Wedell, Anna; Wredenberg, Anna; Sorlin, Arthur; McCann, Emma; Burghel, George J; Menendez, Beatriz; Hoganson, George E; Botto, Lorenzo D; Filloux, Francis M; Aledo-Serrano, Ángel; Gil-Nagel, Antonio; Tatton-Brown, Katrina; Verbeek, Nienke E; van der Zwaag, Bert; Aleck, Kyrieckos A; Fazenbaker, Andrew C; Balciuniene, Jorune; Dubbs, Holly A; Marsh, Eric D; Garber, Kathryn; Ek, Jakob; Duno, Morten; Hoei-Hansen, Christina E; Deardorff, Matthew A; Raca, Gordana; Quindipan, Catherine; van Hirtum-Das, Michele; Breckpot, Jeroen; Hammer, Trine Bjørg; Møller, Rikke S; Whitney, Andrea; Douglas, Andrew G L; Kharbanda, Mira; Brunetti-Pierri, Nicola; Morleo, Manuela; Nigro, Vincenzo; May, Halie J; Tao, James X; Argilli, Emanuela; Sherr, Elliot H; Dobyns, William B.
Affiliation
  • Mattison KA; Genetics and Molecular Biology Graduate Program, Graduate Division of Biological and Biomedical Sciences, Laney Graduate School, Emory University, Atlanta, GA, USA.
  • Tossing G; Department of Human Genetics, Emory University, Atlanta, GA, USA.
  • Mulroe F; Department of Neuroscience, University of Montreal, Montreal, QC, Canada.
  • 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; 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.
  • Schreiber A; Department of Human Genetics, Emory University, Atlanta, GA, USA.
  • Alsadah A; Greenwood Genetics Center, Greenwood, SC, USA.
  • Neilson DE; Center for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, OH, USA.
  • Naess K; Center for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, OH, USA.
  • Wedell A; Division of Genetics and Metabolism, Department of Child Health, The University of Arizona College of Medicine, Phoenix, AZ, USA.
  • Wredenberg A; Department of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix Children's Medical Group, Phoenix, AZ, USA.
  • Sorlin A; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
  • McCann E; Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden.
  • Burghel GJ; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
  • Menendez B; Deparment of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.
  • Hoganson GE; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
  • Botto LD; Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden.
  • Filloux FM; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg.
  • Aledo-Serrano Á; Liverpool Center for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK.
  • Gil-Nagel A; Genomic Diagnostic Laboratory, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  • Tatton-Brown K; UI Health, Chicago, IL, USA.
  • Verbeek NE; Division of Genetics, Department of Pediatrics, University of Illinois College of Medicine, Chicago, IL, USA.
  • van der Zwaag B; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
  • Aleck KA; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
  • Fazenbaker AC; Genetic Epilepsy Program, Department of Neurology, Ruber International Hospital, Madrid, Spain.
  • Balciuniene J; Genetic Epilepsy Program, Department of Neurology, Ruber International Hospital, Madrid, Spain.
  • Dubbs HA; 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.
  • Marsh ED; Department of Genetics, University Medical Center Utrecht, Member of the ERN EpiCARE, Utrecht, The Netherlands.
  • Garber K; Department of Genetics, University Medical Center Utrecht, Member of the ERN EpiCARE, Utrecht, The Netherlands.
  • Ek J; Division of Genetics and Metabolism, Department of Child Health, The University of Arizona College of Medicine, Phoenix, AZ, USA.
  • Duno M; Department of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix Children's Medical Group, Phoenix, AZ, USA.
  • Hoei-Hansen CE; Department of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix Children's Medical Group, Phoenix, AZ, USA.
  • Deardorff MA; Divison of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Raca G; PerkinElmer Genomics, Pittsburgh, PA, USA.
  • Quindipan C; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • van Hirtum-Das M; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Breckpot J; Department of Human Genetics, Emory University, Atlanta, GA, USA.
  • Hammer TB; Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark.
  • Møller RS; Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark.
  • Whitney A; Department of Pediatrics, University Hospital of Copenhagen, Copenhagen, Denmark.
  • Douglas AGL; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
  • Kharbanda M; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.
  • Brunetti-Pierri N; Department of Pediatrics, Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, CA, USA.
  • Morleo M; Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
  • Nigro V; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.
  • May HJ; Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
  • Tao JX; Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.
  • Argilli E; Department of Pediatrics, Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, CA, USA.
  • Sherr EH; Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
  • Dobyns WB; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Brain ; 146(4): 1357-1372, 2023 04 19.
Article in En | MEDLINE | ID: mdl-36074901
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Vacuolar Proton-Translocating ATPases / Epilepsy Type of study: Risk_factors_studies Limits: Humans Language: En Journal: Brain Year: 2023 Document type: Article
Fulltext
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Vacuolar Proton-Translocating ATPases / Epilepsy Type of study: Risk_factors_studies Limits: Humans Language: En Journal: Brain Year: 2023 Document type: Article