ea0051p019 | Miscellaneous/other | BSPED2017
Giri Dinesh
, Scott John
, Kemp Bruce
, Didi Mohammed
, Means Anthony
, Senniappan Senthil
Background: Congenital hyperinsulinism (CHI) is a disorder of unregulated insulin secretion causing persistent hypoglycaemia. In around 50% of the patients with CHI, the underlying molecular genetic etiology is unknown. Ca2+/calmodulin-dependent protein kinase 2 (CaMKK2) belongs to the Serine/Threonine protein kinase family. Alternative splicing results in multiple transcripts encoding distinct isoforms. We report, for the first time, CaMKK2 mutati...