Article

A missense <i>KCNQ1</i> Mutation Impairs Insulin Secretion in Neonatal Diabetes

2021-08-26

Abstract excerpt

KCNQ1/Kv7 is a voltage-gated K + channel that regulates heart rhythm, glucose and salt homeostasis. Mutations of KCNQ1 are primarily associated with long-QT syndrome and type 2 diabetes; however, thus far KCNQ1 mutations have not been associated with monogenetic diabetes. Here, we identified a homozygous KCNQ1 missense mutation (R397W) in an individual with permanent neonatal diabetes (PND). To identify the me...

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Literature Corpus work: 28e205b5-e63b-51cb-a2fd-dc12033cf4e8
DOI: 10.1101/2021.08.24.457485

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