Neonatal Diabetes in Patients Affected by Liang-Wang Syndrome Carrying KCNMA1 Variant p.(Gly375Arg) Suggest a Potential Role of Ca<sup>2+</sup> and Voltage-Activated K<sup>+</sup> Channel Activity in Human Insulin Secretion.

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第一作者： Chiara,Mameli

第一单位： Department of Pediatrics, Vittore Buzzi Children's Hospital, 20154 Milan, Italy.;Department of Biomedical and Clinical Sciences "L. Sacco", Università di Milano, 20157 Milan, Italy.

作者： Chiara,Mameli ^[1] ; Roberta,Cazzola ^[2] ; Luigina,Spaccini ^[3] ; Valeria,Calcaterra ^[4] ; Maddalena,Macedoni ^[5] ; Paola Azzurra,La Verde ^[6] ; Enza,D'Auria ^[5] ; Elvira,Verduci ^[7] ; Gianluca,Lista ^[6] ; Gian Vincenzo,Zuccotti ^[1]

作者单位： Department of Pediatrics, Vittore Buzzi Children's Hospital, 20154 Milan, Italy.;Department of Biomedical and Clinical Sciences "L. Sacco", Università di Milano, 20157 Milan, Italy. ^[1] Department of Biomedical and Clinical Sciences "L. Sacco", Università di Milano, 20157 Milan, Italy. ^[2] Clinical Genetics Service, Vittore Buzzi Children's Hospital, 20154 Milan, Italy. ^[3] Department of Pediatrics, Vittore Buzzi Children's Hospital, 20154 Milan, Italy.;Pediatric and Adolescent Unit, Department of Internal Medicine, University of Pavia, 27100 Pavia, Italy. ^[4] Department of Pediatrics, Vittore Buzzi Children's Hospital, 20154 Milan, Italy. ^[5] Division of Neonatology, Department of Pediatrics, Vittore Buzzi Children's Hospital, 20154 Milan, Italy. ^[6] Department of Pediatrics, Vittore Buzzi Children's Hospital, 20154 Milan, Italy.;Department of Health Sciences, Università di Milano, 20146 Milan, Italy. ^[7]

关键词 KCNMA1-linked channelopathy Liang-Wang syndrome big potassium channel insulin secretion neonatal diabetes