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Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy.
Carvill, Gemma L; Helbig, Katherine L; Myers, Candace T; Scala, Marcello; Huether, Robert; Lewis, Sara; Kruer, Tyler N; Guida, Brandon S; Bakhtiari, Somayeh; Sebe, Joy; Tang, Sha; Stickney, Heather; Oktay, Sehribani Ulusoy; Bhandiwad, Ashwin A; Ramsey, Keri; Narayanan, Vinodh; Feyma, Timothy; Rohena, Luis O; Accogli, Andrea; Severino, Mariasavina; Hollingsworth, Georgina; Gill, Deepak; Depienne, Christel; Nava, Caroline; Sadleir, Lynette G; Caruso, Paul A; Lin, Angela E; Jansen, Floor E; Koeleman, Bobby; Brilstra, Eva; Willemsen, Marjolein H; Kleefstra, Tjitske; Sa, Joaquim; Mathieu, Marie-Laure; Perrin, Laurine; Lesca, Gaetan; Striano, Pasquale; Casari, Giorgio; Scheffer, Ingrid E; Raible, David; Sattlegger, Evelyn; Capra, Valeria; Padilla-Lopez, Sergio; Mefford, Heather C; Kruer, Michael C.
Afiliação
  • Carvill GL; Ken and Ruth Davee Department of Neurology, Northwestern University, Chicago, Illinois.
  • Helbig KL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Myers CT; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Scala M; Division of Genetic Medicine, Department of Pediatrics, Seattle, Washington.
  • Huether R; Department of Pediatric Neurology & Muscular Disorders, IRCCS Istituto Giannina Gaslini, Via Gerolamo Gaslini, Genoa, Italy.
  • Lewis S; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università degli Studi di Genova, Genoa, Italy.
  • Kruer TN; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California.
  • Guida BS; Barrow Neurological Institute, Department of Neurology, Phoenix Children's Hospital, Phoenix, Arizona.
  • Bakhtiari S; Departments of Child Health, Cellular & Molecular Medicine, and Neurology and Program in Genetics, University of Arizona College of Medicine Phoenix, Phoenix, Arizona.
  • Sebe J; Barrow Neurological Institute, Department of Neurology, Phoenix Children's Hospital, Phoenix, Arizona.
  • Tang S; Departments of Child Health, Cellular & Molecular Medicine, and Neurology and Program in Genetics, University of Arizona College of Medicine Phoenix, Phoenix, Arizona.
  • Stickney H; Barrow Neurological Institute, Department of Neurology, Phoenix Children's Hospital, Phoenix, Arizona.
  • Oktay SU; Departments of Child Health, Cellular & Molecular Medicine, and Neurology and Program in Genetics, University of Arizona College of Medicine Phoenix, Phoenix, Arizona.
  • Bhandiwad AA; Barrow Neurological Institute, Department of Neurology, Phoenix Children's Hospital, Phoenix, Arizona.
  • Ramsey K; Departments of Child Health, Cellular & Molecular Medicine, and Neurology and Program in Genetics, University of Arizona College of Medicine Phoenix, Phoenix, Arizona.
  • Narayanan V; Department of Biology, University of Washington, Seattle, Washington.
  • Feyma T; Department of Biological Structure, University of Washington, Seattle, Washington.
  • Rohena LO; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California.
  • Accogli A; Department of Biological Structure, University of Washington, Seattle, Washington.
  • Severino M; Department of Biology, University of Washington, Seattle, Washington.
  • Hollingsworth G; Department of Biological Structure, University of Washington, Seattle, Washington.
  • Gill D; Department of Biological Structure, University of Washington, Seattle, Washington.
  • Depienne C; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona.
  • Nava C; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona.
  • Sadleir LG; Department of Neurology, Gillette Children's Specialty Healthcare, St. Paul, Minnesota.
  • Caruso PA; Department of Pediatrics, Division of Genetics, San Antonio Military Medical Center, San Antonio, Texas.
  • Lin AE; Department of Pediatrics, Long School of Medicine, University of Texas, San Antonio, Texas.
  • Jansen FE; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università degli Studi di Genova, Genoa, Italy.
  • Koeleman B; Medical Genetics Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
  • Brilstra E; Department of Pediatric Neurology & Muscular Disorders, IRCCS Istituto Giannina Gaslini, Via Gerolamo Gaslini, Genoa, Italy.
  • Willemsen MH; Departments of Medicine and Paediatrics, University of Melbourne and Austin Health Royal Children's Hospital, Melbourne, Australia.
  • Kleefstra T; Ty Nelson Department of Neurology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Sa J; INSERM UMR 975, Institut du Cerveau et de la Moelle Epinière, Hôpital Pitié-Salpêtrière, Paris, France.
  • Mathieu ML; INSERM UMR 975, Institut du Cerveau et de la Moelle Epinière, Hôpital Pitié-Salpêtrière, Paris, France.
  • Perrin L; Department of Paediatrics and Child Health, University of Otago Wellington, Wellington South, New Zealand.
  • Lesca G; Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston.
  • Striano P; Medical Genetics, Department of Pediatrics, MassGeneral Hospital for Children, Harvard Medical School, Boston, Massachusetts.
  • Casari G; Department of Pediatric Neurology, University Medical Center, Utrecht, The Netherlands.
  • Scheffer IE; Department of Pediatric Neurology, University Medical Center, Utrecht, The Netherlands.
  • Raible D; Department of Genetics, Utrecht University, Utrecht, The Netherlands.
  • Sattlegger E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Capra V; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Padilla-Lopez S; Serviço de Genética Médica, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
  • Mefford HC; Neuropaediatrics Department, Femme Mère Enfant Hospital, Lyon, France.
  • Kruer MC; Claude Bernard Lyon 1 University, Lyon, France.
Hum Mutat ; 41(7): 1263-1279, 2020 07.
Article em En | MEDLINE | ID: mdl-32196822
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia Generalizada / Mutação de Sentido Incorreto / Fator 1 de Elongação de Peptídeos Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia Generalizada / Mutação de Sentido Incorreto / Fator 1 de Elongação de Peptídeos Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article