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KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
Zhang, Yongqiang; Tachtsidis, Georgios; Schob, Claudia; Koko, Mahmoud; Hedrich, Ulrike B S; Lerche, Holger; Lemke, Johannes R; van Haeringen, Arie; Ruivenkamp, Claudia; Prescott, Trine; Tveten, Kristian; Gerstner, Thorsten; Pruniski, Brianna; DiTroia, Stephanie; VanNoy, Grace E; Rehm, Heidi L; McLaughlin, Heather; Bolz, Hanno J; Zechner, Ulrich; Bryant, Emily; McDonough, Tiffani; Kindler, Stefan; Bähring, Robert.
Afiliación
  • Zhang Y; Center for Experimental Medicine, Institute for Cellular and Integrative Physiology, University Hospital Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Tachtsidis G; Southeast University, Nanjing 210009, China.
  • Schob C; Center for Experimental Medicine, Institute for Cellular and Integrative Physiology, University Hospital Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Koko M; Institute for Human Genetics, University Hospital Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Hedrich UBS; Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
  • Lerche H; Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
  • Lemke JR; Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
  • van Haeringen A; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.
  • Ruivenkamp C; Center for Rare Diseases, University of Leipzig Medical Center, 04103 Leipzig, Germany.
  • Prescott T; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, The Netherlands.
  • Tveten K; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, The Netherlands.
  • Gerstner T; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.
  • Pruniski B; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.
  • DiTroia S; Department of Child Neurology and Rehabilitation, Hospital of Southern Norway, 4838 Arendal, Norway.
  • VanNoy GE; Department of Pediatrics, Hospital of Southern Norway, 4838 Arendal, Norway.
  • Rehm HL; Division of Genetics & Metabolism, Phoenix Children's Medical Group, Phoenix, AZ 85016, USA.
  • McLaughlin H; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Bolz HJ; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Zechner U; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Bryant E; Invitae Corporation, San Francisco, CA 94103, USA.
  • McDonough T; Senckenberg Centre for Human Genetics, 60314 Frankfurt/Main, Germany.
  • Kindler S; Institute of Human Genetics, University Hospital of Cologne, 50931 Cologne, Germany.
  • Bähring R; Senckenberg Centre for Human Genetics, 60314 Frankfurt/Main, Germany.
Hum Mol Genet ; 30(23): 2300-2314, 2021 11 16.
Article en En | MEDLINE | ID: mdl-34245260
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Variación Genética / Activación del Canal Iónico / Discapacidades del Desarrollo / Canales de Potasio Shal Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Variación Genética / Activación del Canal Iónico / Discapacidades del Desarrollo / Canales de Potasio Shal Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Alemania