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Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Guerrini, Renzo; Mei, Davide; Kerti-Szigeti, Katalin; Pepe, Sara; Koenig, Mary Kay; Von Allmen, Gretchen; Cho, Megan T; McDonald, Kimberly; Baker, Janice; Bhambhani, Vikas; Powis, Zöe; Rodan, Lance; Nabbout, Rima; Barcia, Giulia; Rosenfeld, Jill A; Bacino, Carlos A; Mignot, Cyril; Power, Lillian H; Harris, Catharine J; Marjanovic, Dragan; Møller, Rikke S; Hammer, Trine B; Keski Filppula, Riikka; Vieira, Päivi; Hildebrandt, Clara; Sacharow, Stephanie; Maragliano, Luca; Benfenati, Fabio; Lachlan, Katherine; Benneche, Andreas; Petit, Florence; de Sainte Agathe, Jean Madeleine; Hallinan, Barbara; Si, Yue; Wentzensen, Ingrid M; Zou, Fanggeng; Narayanan, Vinodh; Matsumoto, Naomichi; Boncristiano, Alessandra; la Marca, Giancarlo; Kato, Mitsuhiro; Anderson, Kristin; Barba, Carmen; Sturiale, Luisa; Garozzo, Domenico; Bei, Roberto; Masuelli, Laura; Conti, Valerio; Novarino, Gaia; Fassio, Anna.
Afiliação
  • Guerrini R; Neuroscience Department, Children's Hospital Meyer, University of Florence, Florence, Italy.
  • Mei D; Neuroscience Department, Children's Hospital Meyer, University of Florence, Florence, Italy.
  • Kerti-Szigeti K; Institute of Science and Technology Austria (ISTA), Klosterneuburg, Austria.
  • Pepe S; Department of Experimental Medicine, University of Genoa, Italy.
  • Koenig MK; Center for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Genova, Italy.
  • Von Allmen G; Department of Pediatrics, Division of Child and Adolescent Neurology, The University of Texas McGovern Medical School, Houston, TX, USA.
  • Cho MT; Department of Pediatrics, Division of Child and Adolescent Neurology, The University of Texas McGovern Medical School, Houston, TX, USA.
  • McDonald K; GeneDx, Gaithersburg, MD 20877, USA.
  • Baker J; Pediatric Neurology, University of Mississippi Medical Center, Jackson, MS, USA.
  • Bhambhani V; Genetics and Genomics, Children's Minnesota, Minneapolis, MN, USA.
  • Powis Z; Genetics and Genomics, Children's Minnesota, Minneapolis, MN, USA.
  • Rodan L; Ambry Genetics, Aliso Viejo, CA, USA.
  • Nabbout R; Division of Genetics and Genomics and Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Barcia G; Reference Centre for Rare Epilepsies, Department of Genetics, Necker Enfants Malades Hospital, APHP, member of ERN EpiCARE, Université de Paris, Paris, France.
  • Rosenfeld JA; Reference Centre for Rare Epilepsies, Department of Genetics, Necker Enfants Malades Hospital, APHP, member of ERN EpiCARE, Université de Paris, Paris, France.
  • Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Mignot C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Power LH; APHP, Sorbonne Université, Départément de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.
  • Harris CJ; Institut du Cerveau (ICM), UMR S 1127, Inserm U1127, CNRS UMR 7225, Sorbonne Université, 75013 Paris, France.
  • Marjanovic D; Pediatric Neurology, Stead Family Department of Pediatrics, University of Iowa Stead Family Children's Hospital, Iowa City, IA, USA.
  • Møller RS; Department of Pediatric Genetics, University of Missouri Medical Center, Columbia, MO 65212, USA.
  • Hammer TB; Danish Epilepsy Centre Filadelfia, Adult Neurology, Dianalund, Denmark.
  • Keski Filppula R; Department of Regional Health Services, University of Southern Denmark, Odense, Denmark.
  • Vieira P; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center Filadelfia, Dianalund, Denmark.
  • Sacharow S; Department of Clinical Genetics, Oulu University Hospital, Medical Research Center Oulu and PEDEGO Research Unit, University of Oulu, Oulu, Finland.
  • Maragliano L; Division of Genetics and Genomics, Metabolism Program, Boston Children's Hospital, Boston, MA, USA.
  • Benfenati F; Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Benneche A; Center for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Genova, Italy.
  • Petit F; Department of Life and Environmental Sciences, Polytechnic University of Marche, Ancona, Italy.
  • de Sainte Agathe JM; Center for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Genova, Italy.
  • Hallinan B; IRCCS Ospedale Policlinico San Martino, Genova, Italy.
  • Si Y; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Wentzensen IM; Human Development and Health, Faculty of Medicine University of Southampton, Southampton, UK.
  • Zou F; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
  • Narayanan V; CHU Lille, Clinique de Génétique, F-59000 Lille, France.
  • Matsumoto N; Laboratoire de Biologie Médicale Multi Sites SeqOIA, Laboratoire de Médecine Génomique, APHP. Sorbonne Université, Paris, France.
  • Boncristiano A; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
  • la Marca G; Division of Child Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Kato M; GeneDx, Gaithersburg, MD 20877, USA.
  • Anderson K; GeneDx, Gaithersburg, MD 20877, USA.
  • Barba C; GeneDx, Gaithersburg, MD 20877, USA.
  • Sturiale L; Neurogenomics Division, Center for Rare Childhood Disorders, Translational Genomics Research Institute (TGen), Phoenix, AZ 85012, USA.
  • Garozzo D; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Bei R; Neuroscience Department, Children's Hospital Meyer, University of Florence, Florence, Italy.
  • Masuelli L; Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy.
  • Conti V; Department of Pediatrics, Showa University School of Medicine and Epilepsy Medical Center, Showa University Hospital, Tokyo, Japan.
  • Novarino G; Founder and Research Liaison, 'ATP6V1A Families' Facebook group.
  • Fassio A; Neuroscience Department, Children's Hospital Meyer, University of Florence, Florence, Italy.
Brain ; 145(8): 2687-2703, 2022 08 27.
Article em En | MEDLINE | ID: mdl-35675510
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Encefalopatias / ATPases Vacuolares Próton-Translocadoras / Epilepsia / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Child / Humans / Infant Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Encefalopatias / ATPases Vacuolares Próton-Translocadoras / Epilepsia / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Child / Humans / Infant Idioma: En Ano de publicação: 2022 Tipo de documento: Article