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CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.
El Ghaleb, Yousra; Schneeberger, Pauline E; Fernández-Quintero, Monica L; Geisler, Stefanie M; Pelizzari, Simone; Polstra, Abeltje M; van Hagen, Johanna M; Denecke, Jonas; Campiglio, Marta; Liedl, Klaus R; Stevens, Cathy A; Person, Richard E; Rentas, Stefan; Marsh, Eric D; Conlin, Laura K; Tuluc, Petronel; Kutsche, Kerstin; Flucher, Bernhard E.
Affiliation
  • El Ghaleb Y; Institute of Physiology, Medical University Innsbruck, Innsbruck 6020, Austria.
  • Schneeberger PE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg 20251, Germany.
  • Fernández-Quintero ML; Institute of Physiology, Medical University Innsbruck, Innsbruck 6020, Austria.
  • Geisler SM; Institute of Theoretical Chemistry, University of Innsbruck, Innsbruck 6020, Austria.
  • Pelizzari S; Department of Pharmacology, University of Innsbruck, Innsbruck 6020, Austria.
  • Polstra AM; Institute of Physiology, Medical University Innsbruck, Innsbruck 6020, Austria.
  • van Hagen JM; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, 1012 WX, The Netherlands.
  • Denecke J; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, 1012 WX, The Netherlands.
  • Campiglio M; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20251, Germany.
  • Liedl KR; Institute of Physiology, Medical University Innsbruck, Innsbruck 6020, Austria.
  • Stevens CA; Institute of Theoretical Chemistry, University of Innsbruck, Innsbruck 6020, Austria.
  • Person RE; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 37403, USA.
  • Rentas S; GeneDX, Gaithersburg, MD 20877, USA.
  • Marsh ED; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Conlin LK; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Tuluc P; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Kutsche K; Department of Pharmacology, University of Innsbruck, Innsbruck 6020, Austria.
  • Flucher BE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg 20251, Germany.
Brain ; 144(7): 2092-2106, 2021 08 17.
Article in En | MEDLINE | ID: mdl-33704440
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Calcium Channels / Ion Channel Gating / Neurodevelopmental Disorders Type of study: Prognostic_studies Limits: Adult / Animals / Child / Female / Humans / Male / Middle aged Language: En Journal: Brain Year: 2021 Type: Article Affiliation country: Austria
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Calcium Channels / Ion Channel Gating / Neurodevelopmental Disorders Type of study: Prognostic_studies Limits: Adult / Animals / Child / Female / Humans / Male / Middle aged Language: En Journal: Brain Year: 2021 Type: Article Affiliation country: Austria