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Article

Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort.

Gene - 25 May 2013

Faletra Flavio, Athanasakis Emmanouil, Morgan Anna, Biarnés Xevi, Fornasier Federico, Parini Rossella, Furlan Francesca, Boiani Arianna, Maiorana Arianna, Dionisi-Vici Carlo, Giordano Laura, Burlina Alberto, Ventura Alessandro, Gasparini Paolo

Abstract excerpt

Congenital hyperinsulinism (CHI) is a genetic disorder characterized by profound hypoglycemia related to an inappropriate insulin secretion. It is a heterogeneous disease classified into two major subgroups: "channelopathies" due to defects in ATP-sensitive potassium channel, encoded by ABCC8 and KCNJ11 genes, and "metabolopathies" caused by mutation of several genes (GLUD1, GCK, HADH, SLC16A1, HNF4A and HNF1A)...

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Source

Identifiers

PMID: 23506826
DOI: 10.1016/j.gene.2013.03.021

Genes

ABCC8
GCK
GLUD1
HADH
KCNJ11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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