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Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
Mochel, Fanny; Rastetter, Agnès; Ceulemans, Berten; Platzer, Konrad; Yang, Sandra; Shinde, Deepali N; Helbig, Katherine L; Lopergolo, Diego; Mari, Francesca; Renieri, Alessandra; Benetti, Elisa; Canitano, Roberto; Waisfisz, Quinten; Plomp, Astrid S; Huisman, Sylvia A; Wilson, Golder N; Cathey, Sara S; Louie, Raymond J; Gaudio, Daniela Del; Waggoner, Darrel; Kacker, Shawn; Nugent, Kimberly M; Roeder, Elizabeth R; Bruel, Ange-Line; Thevenon, Julien; Ehmke, Nadja; Horn, Denise; Holtgrewe, Manuel; Kaiser, Frank J; Kamphausen, Susanne B; Abou Jamra, Rami; Weckhuysen, Sarah; Dalle, Carine; Depienne, Christel.
Afiliação
  • Mochel F; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013 Paris, France.
  • Rastetter A; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique and Centre de Référence Neurométabolique Adulte, F-75013, Paris, France.
  • Ceulemans B; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013 Paris, France.
  • Platzer K; Division of Paediatric Neurology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.
  • Yang S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Shinde DN; GeneDx, Gaithersburg, MD 20877, USA.
  • Helbig KL; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, CA, USA.
  • Lopergolo D; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Mari F; The Epilepsy Neurogenetics Initiative, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
  • Renieri A; Medical Genetics, University of Siena, Siena, Italy.
  • Benetti E; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
  • Canitano R; Medical Genetics, University of Siena, Siena, Italy.
  • Waisfisz Q; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
  • Plomp AS; Medical Genetics, University of Siena, Siena, Italy.
  • Huisman SA; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
  • Wilson GN; Department of Medical Biotechnologies, University of Siena, Siena, Italy.
  • Cathey SS; Division of Child and Adolescent Neuropsychiatry, University Hospital of Siena, Siena, Italy.
  • Louie RJ; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
  • Gaudio DD; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
  • Waggoner D; Department of Pediatrics, Amsterdam UMC, Amsterdam, The Netherlands.
  • Kacker S; Prinsenstichting, Purmerend, The Netherlands.
  • Nugent KM; Department of Pediatrics, Texas Tech University Health Science Center, Lubbock, Texas, USA.
  • Roeder ER; Greenwood Genetic Center, Greenwood, South Carolina, 29646, USA.
  • Bruel AL; Department of Human Genetics, University of Chicago, Chicago, IL, 60637, USA.
  • Thevenon J; Department of Human Genetics, University of Chicago, Chicago, IL, 60637, USA.
  • Ehmke N; Department of Human Genetics, University of Chicago, Chicago, IL, 60637, USA.
  • Horn D; Department of Pediatrics, Section of Child Neurology, University of Chicago, Chicago, IL, 60637, USA.
  • Holtgrewe M; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA.
  • Kaiser FJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Kamphausen SB; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA.
  • Abou Jamra R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Weckhuysen S; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.
  • Dalle C; Centre de référence maladies rares 'déficiences intellectuelles de causes rares', Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
  • Depienne C; Service de Génétique, Génomique, et Procréation, Centre Hospitalier Universitaire Grenoble Alpes, 38700 La Tronche, France.
Brain ; 143(12): 3564-3573, 2020 12 01.
Article em En | MEDLINE | ID: mdl-33242881
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Canais de Potássio Ativados por Cálcio de Condutância Baixa / Transtornos do Neurodesenvolvimento / Transtornos dos Movimentos Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Humans / Male / Middle aged Idioma: En Revista: Brain Ano de publicação: 2020 Tipo de documento: Article País de afiliação: França
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Canais de Potássio Ativados por Cálcio de Condutância Baixa / Transtornos do Neurodesenvolvimento / Transtornos dos Movimentos Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Humans / Male / Middle aged Idioma: En Revista: Brain Ano de publicação: 2020 Tipo de documento: Article País de afiliação: França