Mutations in genes encoding K ATP channel subunits have been reported for pancreatic
disorders and Cantú syndrome. Here, we report a syndrome in six patients from two families …

ATP‐sensitive potassium channels (K ATP channels) are hetero‐octameric nucleotide‐gated
ion channels that couple cellular metabolism to excitability in various tissues. In the heart, …

Islet β‐cell membrane excitability is a well‐established regulator of mammalian insulin
secretion, and defects in β‐cell excitability are linked to multiple forms of diabetes. Evolutionary …

ATP-sensitive potassium channel (K ATP )gain- (GOF) and loss-of-function (LOF) mutations
underlie human neonatal diabetes mellitus (NDM) and hyperinsulinism (HI), respectively. …

Zebrafish have long been used as a model vertebrate organism in cardiovascular research.
The technical difficulties of isolating individual cells from the zebrafish cardiovascular tissues …

… as previously reported for KATP channel currents in zebrafish cardiovasculature (Singareddy …
The work described in this chapter is published in Journal of Physiology (Singareddy …

… Heart rate variability is an intrinsic property of the heart’s rhythm. Changes in variability are
associated with diverse physiological conditions and serve as useful noninvasive method for …

Results Patient descriptions. Four siblings from Family 1 (aged 12–21 years) and two
siblings from Family 2 (aged 29, 33)(Fig. 1a) are described. The families are not known to be …

The majority of neonatal diabetes (NDM), defined by early onset of hyperglycemia due to
impaired β-cell function, is caused by gain-of-function (GOF) mutations in the ATP-sensitive …

Although rare, Cantú syndrome (CS) is a debilitating syndrome without any specific therapy,
caused by gain-of-function (GOF) mutations in KCNJ8 and ABCC9 genes that encode ATP-…