KCNQ1 Mutations Cause Both Neonatal Diabetes and Hyperinsulinemic Hypoglycaemia of Infancy

hrp0086ha1 | KCNQ1 Mutations Cause Both Neonatal Diabetes and Hyperinsulinemic Hypoglycaemia of Infancy | ESPE2016

Liang Lei , Jia Shiqi , Frohler Sebastian , Kuhnen Peter , Blankenstein Oliver , Krill Winfried , Khodaverdi Semik , Cao Aidi , Hummel Oliver , Elbarbary Nancy , Hussain Khalid , Voelkl Jacob , Chen Wei , Gong Maolian , Raile Klemens

Background: Mutations in genes involved in insulin secretion or regulation of β cell identity cause both persistent neonatal diabetes (PND) and hyperinsulinemic hypoglycemia of infancy (HHI) pinpointing shared pathogenic mechanisms. KCNQ1 encodes a potassium channel protein, Kv7.1, which is a voltage-gated potassium channel expressed in cardiac tissue, pancreas, inner ear neurons, and other tissues. Variants in or nearby to KCNQ1 were linked t...

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ESPE Abstracts

55th Annual ESPE

Henning Anderson Award

KCNQ1 Mutations Cause Both Neonatal Diabetes and Hyperinsulinemic Hypoglycaemia of Infancy

KCNQ1 Mutations Cause Both Neonatal Diabetes and Hyperinsulinemic Hypoglycaemia of Infancy

BiosciAbstracts