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Autism and developmental disability caused by KCNQ3 gain-of-function variants.
Sands, Tristan T; Miceli, Francesco; Lesca, Gaetan; Beck, Anita E; Sadleir, Lynette G; Arrington, Daniel K; Schönewolf-Greulich, Bitten; Moutton, Sébastien; Lauritano, Anna; Nappi, Piera; Soldovieri, Maria Virginia; Scheffer, Ingrid E; Mefford, Heather C; Stong, Nicholas; Heinzen, Erin L; Goldstein, David B; Perez, Ana Grijalvo; Kossoff, Eric H; Stocco, Amber; Sullivan, Jennifer A; Shashi, Vandana; Gerard, Benedicte; Francannet, Christine; Bisgaard, Anne-Marie; Tümer, Zeynep; Willems, Marjolaine; Rivier, François; Vitobello, Antonio; Thakkar, Kavita; Rajan, Deepa S; Barkovich, A James; Weckhuysen, Sarah; Cooper, Edward C; Taglialatela, Maurizio; Cilio, M Roberta.
Affiliation
  • Sands TT; Department of Neurology, Columbia University Medical Center, New York, NY.
  • Miceli F; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY.
  • Lesca G; Section of Pharmacology, Department of Neuroscience, University of Naples "Federico II,", Naples, Italy.
  • Beck AE; Department of Medical Genetics, Reference Center for Developmental Anomalies, Civil Hospices of Lyon, Lyon, France.
  • Sadleir LG; French Institute of Health and Medical Research U1028, French National Center for Scientific Research UMR5292, Center for Research in Neuroscience in Lyon, Genetics of Neurodevelopment Team, Claude Bernard University Lyon 1, Lyon, France.
  • Arrington DK; Claude Bernard University Lyon 1, Lyon, France.
  • Schönewolf-Greulich B; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA.
  • Moutton S; Seattle Children's Hospital, Seattle, WA.
  • Lauritano A; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.
  • Nappi P; Children's Neurology, St Luke's Children's Hospital, Boise, ID.
  • Soldovieri MV; Center for Rett Syndrome, Department of Pediatrics and Adolescent Medicine, National Hospital, Copenhagen, Denmark.
  • Scheffer IE; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet and Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
  • Mefford HC; French Institute of Health and Medical Research U1231, Laboratory of Cognitive Neuroscience UMR1231, Genetics of Developmental Anomalies, Burgundy University, F-21000, Dijon, France.
  • Stong N; Section of Pharmacology, Department of Neuroscience, University of Naples "Federico II,", Naples, Italy.
  • Heinzen EL; Section of Pharmacology, Department of Neuroscience, University of Naples "Federico II,", Naples, Italy.
  • Goldstein DB; Department of Medicine and Health Sciences "Vincenzo Tiberio", University of Molise, Campobasso, Italy.
  • Perez AG; University of Melbourne, Austin Health, Royal Children's Hospital, Florey and Murdoch Institutes, Melbourne, Victoria, Australia.
  • Kossoff EH; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA.
  • Stocco A; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY.
  • Sullivan JA; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY.
  • Shashi V; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY.
  • Gerard B; Department of Neurology, University of California, San Francisco, San Francisco, CA.
  • Francannet C; Departments of Pediatrics and Neurology, Johns Hopkins School of Medicine, Baltimore, MD.
  • Bisgaard AM; Pediatric Neurology, INTEGRIS Baptist Medical Center, Oklahoma City, OK.
  • Tümer Z; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC.
  • Willems M; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC.
  • Rivier F; Molecular Genetic Unit, Strasbourg University Hospital, Strasbourg, France.
  • Vitobello A; Genetics Department, Reference Center for Developmental Anomalies, Clermont-Ferrand University Hospital, Clermont-Ferrand, France.
  • Thakkar K; Center for Rett Syndrome, Department of Pediatrics and Adolescent Medicine, National Hospital, Copenhagen, Denmark.
  • Rajan DS; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet and Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
  • Barkovich AJ; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
  • Weckhuysen S; Reference Center for Developmental Disorders, Department of Medical Genetics, Arnaud de Villeneuve Hospital, Montpellier University Hospital, Montpellier, France.
  • Cooper EC; Department of Pediatric Neurology, University Hospital of Montpellier, and Physiology and Experimental Medicine of Heart and Muscle Unit, University of Montpellier, National Institute for Health and Medical Research, French National Center for Scientific Research, Montpellier, France.
  • Taglialatela M; Functional Unit 12, Innovation in Genomic Diagnosis of Rare Diseases, University Hospital Dijon-Bourgogne, Dijon, France.
  • Cilio MR; Division of Neurology, Department of Pediatrics, Children's Hospital of Pittsburgh and University of Pittsburgh School of Medicine, Pittsburgh, PA.
Ann Neurol ; 86(2): 181-192, 2019 08.
Article in En | MEDLINE | ID: mdl-31177578
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autistic Disorder / Developmental Disabilities / KCNQ3 Potassium Channel / Gain of Function Mutation Type of study: Prognostic_studies Limits: Adult / Child / Child, preschool / Humans / Male Language: En Journal: Ann Neurol Year: 2019 Document type: Article Country of publication: Estados Unidos
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autistic Disorder / Developmental Disabilities / KCNQ3 Potassium Channel / Gain of Function Mutation Type of study: Prognostic_studies Limits: Adult / Child / Child, preschool / Humans / Male Language: En Journal: Ann Neurol Year: 2019 Document type: Article Country of publication: Estados Unidos