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New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel CACNA1C Loss-Of-Function Mutation.
Endres, Dominique; Decher, Niels; Röhr, Isabell; Vowinkel, Kirsty; Domschke, Katharina; Komlosi, Katalin; Tzschach, Andreas; Gläser, Birgitta; Schiele, Miriam A; Runge, Kimon; Süß, Patrick; Schuchardt, Florian; Nickel, Kathrin; Stallmeyer, Birgit; Rinné, Susanne; Schulze-Bahr, Eric; Tebartz van Elst, Ludger.
Afiliación
  • Endres D; Section for Experimental Neuropsychiatry, Department of Psychiatry and Psychotherapy, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79104 Freiburg, Germany.
  • Decher N; Department of Psychiatry and Psychotherapy, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79104 Freiburg, Germany.
  • Röhr I; Institute for Physiology and Pathophysiology, Vegetative Physiology and Marburg Center for Mind, Brain and Behavior-Philipps-University Marburg, 35037 Marburg, Germany.
  • Vowinkel K; Institute for Physiology and Pathophysiology, Vegetative Physiology and Marburg Center for Mind, Brain and Behavior-Philipps-University Marburg, 35037 Marburg, Germany.
  • Domschke K; Institute for Physiology and Pathophysiology, Vegetative Physiology and Marburg Center for Mind, Brain and Behavior-Philipps-University Marburg, 35037 Marburg, Germany.
  • Komlosi K; Department of Psychiatry and Psychotherapy, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79104 Freiburg, Germany.
  • Tzschach A; Center for Basics in Neuromodulation, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
  • Gläser B; Institute of Human Genetics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
  • Schiele MA; Institute of Human Genetics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
  • Runge K; Institute of Human Genetics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
  • Süß P; Department of Psychiatry and Psychotherapy, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79104 Freiburg, Germany.
  • Schuchardt F; Section for Experimental Neuropsychiatry, Department of Psychiatry and Psychotherapy, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79104 Freiburg, Germany.
  • Nickel K; Department of Psychiatry and Psychotherapy, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79104 Freiburg, Germany.
  • Stallmeyer B; Department of Molecular Neurology, University Hospital Erlangen, 91054 Erlangen, Germany.
  • Rinné S; Department of Neurology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
  • Schulze-Bahr E; Section for Experimental Neuropsychiatry, Department of Psychiatry and Psychotherapy, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79104 Freiburg, Germany.
  • Tebartz van Elst L; Department of Psychiatry and Psychotherapy, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79104 Freiburg, Germany.
Int J Mol Sci ; 21(22)2020 Nov 15.
Article en En | MEDLINE | ID: mdl-33203140
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Arritmias Cardíacas / Trastorno Autístico / Trastornos del Humor / Canales de Calcio Tipo L / Esmalte Dental / Canalopatías / Mutación con Pérdida de Función Tipo de estudio: Prognostic_studies Límite: Adult / Humans / Male Idioma: En Revista: Int J Mol Sci Año: 2020 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Arritmias Cardíacas / Trastorno Autístico / Trastornos del Humor / Canales de Calcio Tipo L / Esmalte Dental / Canalopatías / Mutación con Pérdida de Función Tipo de estudio: Prognostic_studies Límite: Adult / Humans / Male Idioma: En Revista: Int J Mol Sci Año: 2020 Tipo del documento: Article País de afiliación: Alemania