Article
A new type of ATP-sensitive potassium channelopathy : Cantú syndrome.
No to hattatsu = Brain and development - 1 Sept 2016
Hiraki Yoko, Takanari Hiroki
Abstract excerpt
Multiple mutations in Kir6.x and SURx genes have implicated ATP-sensitive potassium (KATP) channels and, as a result, have led to diverse diseases, ranging from diabetes and hyperinsulinism to cardiac arrhythmias and cardiovascular disease. These diseases are referred to as KATP channelopathies. Recently, Cantú syndrome (CS), which was found to be caused by mutations in the ABCC9 or KCNJ8 gene, was newly added to...
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