Referenced in: none

Automatically associated channels: Kir1.1 , Kir6.2

Title: Persistent hyperinsulinemic hypoglycemia of infancy due to homozygous KCNJ11 (T294M) mutation.

Authors: V Ilamaran, C Venkatesh, K Manish, B Adhisivam

Journal, date & volume: Indian J Pediatr, 2010 Jul , 77, 803-4

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/20589481

Abstract
Hyperinsulinemic hypoglycemia is the most common cause of persistent hypoglycemia in infancy. While most of the cases are sporadic more than 100 mutations have been reported in the familial type. The authors report a case of familial hyperinsulinemic hypoglycemia with homozygous T294M mutation of the KCNJ11 gene, which responded to diazoxide therapy.