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Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy.
Bott, Laura C; Forouhan, Mitra; Lieto, Maria; Sala, Ambre J; Ellerington, Ruth; Johnson, Janel O; Speciale, Alfina A; Criscuolo, Chiara; Filla, Alessandro; Chitayat, David; Alkhunaizi, Ebba; Shannon, Patrick; Nemeth, Andrea H; Angelucci, Francesco; Lim, Wooi Fang; Striano, Pasquale; Zara, Federico; Helbig, Ingo; Muona, Mikko; Courage, Carolina; Lehesjoki, Anna-Elina; Berkovic, Samuel F; Fischbeck, Kenneth H; Brancati, Francesco; Morimoto, Richard I; Wood, Matthew J A; Rinaldi, Carlo.
Afiliação
  • Bott LC; Department of Molecular Biosciences, Rice Institute for Biomedical Research, Northwestern University, Evanston, IL 60208, USA.
  • Forouhan M; Department of Paediatrics, University of Oxford, Oxford OX1 3QX, UK.
  • Lieto M; Department of Physiology, Anatomy and Genetics, Oxford OX1 3QX, UK.
  • Sala AJ; Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples 80121, Italy.
  • Ellerington R; Department of Molecular Biosciences, Rice Institute for Biomedical Research, Northwestern University, Evanston, IL 60208, USA.
  • Johnson JO; Department of Paediatrics, University of Oxford, Oxford OX1 3QX, UK.
  • Speciale AA; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.
  • Criscuolo C; Department of Paediatrics, University of Oxford, Oxford OX1 3QX, UK.
  • Filla A; Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples 80121, Italy.
  • Chitayat D; Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples 80121, Italy.
  • Alkhunaizi E; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario M5G 1X8, Canada.
  • Shannon P; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario M5G 1X5, Canada.
  • Nemeth AH; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario M5G 1X8, Canada.
  • Angelucci F; Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario M5G 1X5, Canada.
  • Lim WF; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK.
  • Zara F; Department of Life, Health and Environmental Sciences, University of L'Aquila, 67100 Coppito, L'Aquila, Italy.
  • Helbig I; Department of Paediatrics, University of Oxford, Oxford OX1 3QX, UK.
  • Muona M; Institute for Research, Hospitalization and Health Care (IRCCS) "G. Gaslini" Institute, Genova 16147, Italy.
  • Courage C; Institute for Research, Hospitalization and Health Care (IRCCS) "G. Gaslini" Institute, Genova 16147, Italy.
  • Lehesjoki AE; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Berkovic SF; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Fischbeck KH; Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA 19104, USA.
  • Brancati F; Blueprint Genetics, 02150 Espoo, Finland.
  • Morimoto RI; Folkhälsan Research Center, Helsinki, Finland.
  • Wood MJA; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, 00290, Finland.
  • Rinaldi C; Folkhälsan Research Center, Helsinki, Finland.
Brain Commun ; 3(4): fcab245, 2021.
Article em En | MEDLINE | ID: mdl-34909687
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2021 Tipo de documento: Article