Gain-of-function mutation in the voltage-gated potassium channel gene KCNQ1 and glucose-stimulated hypoinsulinemia - case report

Gain-of-function mutation in the voltage-gated potassium channel gene KCNQ1 and glucose-stimulated hypoinsulinemia - case report

Abstract Background The voltage-gated potassium channel Kv7.1 encoded by KCNQ1 is located in both cardiac myocytes and insulin producing beta cells. Loss-of-function mutations in KCNQ1 causes long QT syndrome along with glucose-stimulated hyperinsulinemia, increased C-peptide and postprandial hypogl...

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Bibliographic Details
Main Authors: Jinyi Zhang, Christian R. Juhl, Louise Hylten-Cavallius, Morten Salling-Olsen, Allan Linneberg, Jens Juul Holst, Torben Hansen, Jørgen K. Kanters, Signe S. Torekov
Format: Article
Language:English
Published: BMC 2020-03-01
Series:BMC Endocrine Disorders
Subjects:
Voltage-gated-potassium channels
Gain-of-function
Glucose metabolism
Online Access:http://link.springer.com/article/10.1186/s12902-020-0513-x

Internet

http://link.springer.com/article/10.1186/s12902-020-0513-x

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