Functional Characterization of a Novel KCNJ11 in Frame Mutation-Deletion Associated with Infancy-Onset Diabetes and a Mild Form of Intermediate DEND: A Battle between K_ATP Gain of Channel Activity and Loss of Channel Expression

• Yu-Wen Lin,

  Affiliation Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases, Washington University School of Medicine, St. Louis, Missouri, United States of America

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• Anlong Li,

  Affiliation Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases, Washington University School of Medicine, St. Louis, Missouri, United States of America

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• Valeria Grasso,

  Affiliation Laboratory of Mendelian Diabetes, Bambino Gesù Children's Hospital, Research Institute, at University of Tor Vergata, Rome, Italy

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• Domenica Battaglia,

  Affiliation Child Neurology Unit, Department of Pediatrics, Sacro Cuore Catholic University, Rome, Italy

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• Antonino Crinò,

  Affiliation Autoimmune Endocrine Diseases Unit, Endocrinology Department, Bambino Gesù Children's Hospital, Research Institute, Palidoro, Rome, Italy

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• Carlo Colombo,

  Affiliation Laboratory of Mendelian Diabetes, Bambino Gesù Children's Hospital, Research Institute, at University of Tor Vergata, Rome, Italy

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• Fabrizio Barbetti,

  Affiliations Laboratory of Mendelian Diabetes, Bambino Gesù Children's Hospital, Research Institute, at University of Tor Vergata, Rome, Italy, Department of Internal Medicine, University of Tor Vergata, Rome, Italy

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• Colin G. Nichols

  * E-mail: cnichols@wustl.edu

  Affiliation Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases, Washington University School of Medicine, St. Louis, Missouri, United States of America

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