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

Jinyi ZhangChristian R JuhlLouise Hylten-CavalliusMorten Salling-OlsenAllan LinnebergJens Juul HolstTorben HansenJørgen K KantersSigne Sørensen Torekov

Published in: BMC endocrine disorders (2020)

This case story presents a patient with a gain-of-function mutation KCNQ1 R670K with low glucose-stimulated C-peptide secretion, additionally suggesting involvement of the voltage-gated potassium channel KCNQ1 in glucose-stimulated insulin regulation.

Keyphrases

case report
blood glucose
type diabetes
copy number
glycemic control
blood pressure
skeletal muscle
transcription factor
weight loss
insulin resistance