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Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.
de Kovel, Carolien G F; Syrbe, Steffen; Brilstra, Eva H; Verbeek, Nienke; Kerr, Bronwyn; Dubbs, Holly; Bayat, Allan; Desai, Sonal; Naidu, Sakkubai; Srivastava, Siddharth; Cagaylan, Hande; Yis, Uluc; Saunders, Carol; Rook, Martin; Plugge, Susanna; Muhle, Hiltrud; Afawi, Zaid; Klein, Karl-Martin; Jayaraman, Vijayakumar; Rajagopalan, Ramakrishnan; Goldberg, Ethan; Marsh, Eric; Kessler, Sudha; Bergqvist, Christina; Conlin, Laura K; Krok, Bryan L; Thiffault, Isabelle; Pendziwiat, Manuela; Helbig, Ingo; Polster, Tilman; Borggraefe, Ingo; Lemke, Johannes R; van den Boogaardt, Marie-José; Møller, Rikke S; Koeleman, Bobby P C.
Afiliação
  • de Kovel CGF; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Syrbe S; Department of Language and Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands.
  • Brilstra EH; Division of Child Neurology and Inherited Metabolic Diseases, Department of General Pediatrics, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Verbeek N; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Kerr B; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Dubbs H; Institute of Evolution, Systems and Genomics, Faculty of Medical and Human Sciences, University of Manchester, Manchester, England.
  • Bayat A; Manchester Centre For Genomic Medicine, Central Manchester University Hospitals National Health Service Foundation Trust, Manchester, England.
  • Desai S; Manchester Academic Health Science Centre, Manchester, England.
  • Naidu S; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Srivastava S; Department of Pediatrics, University Hospital of Hvidovre, Copenhagen, Denmark.
  • Cagaylan H; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland.
  • Yis U; Department of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland.
  • Saunders C; Hugo Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland.
  • Rook M; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
  • Plugge S; Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey.
  • Muhle H; Division of Child Neurology, Department of Pediatrics, School of Medicine, Dokuz Eylül University, Izmir, Turkey.
  • Afawi Z; Center for Pediatric Genomic Medicine, Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri.
  • Klein KM; Department of Pediatrics, Children's Mercy Hospital, Kansas City, Missouri.
  • Jayaraman V; Pediatric Pathology and Laboratory Medicine, University of Missouri-Kansas City School of Medicine, Kansas City.
  • Rajagopalan R; Department of Medical Physiology, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Goldberg E; Department of Biomedical Sciences, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Marsh E; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian Albrechts University, Kiel, Germany.
  • Kessler S; Department of Physiology and Pharmacology, Tel Aviv University Medical School, Ramat Aviv, Israel.
  • Bergqvist C; Department of Neurology, Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, University Hospital, Goethe-University Frankfurt, Frankfurt, Germany.
  • Conlin LK; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Krok BL; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Thiffault I; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Pendziwiat M; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Helbig I; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Polster T; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Borggraefe I; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Lemke JR; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • van den Boogaardt MJ; Center for Pediatric Genomic Medicine, Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri.
  • Møller RS; Department of Pediatrics, Children's Mercy Hospital, Kansas City, Missouri.
  • Koeleman BPC; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian Albrechts University, Kiel, Germany.
JAMA Neurol ; 74(10): 1228-1236, 2017 10 01.
Article em En | MEDLINE | ID: mdl-28806457
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Canais de Potássio Shab / Transtornos do Neurodesenvolvimento Idioma: En Ano de publicação: 2017 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: Mutação de Sentido Incorreto / Canais de Potássio Shab / Transtornos do Neurodesenvolvimento Idioma: En Ano de publicação: 2017 Tipo de documento: Article