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Article

A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus.

Journal of clinical research in pediatric endocrinology - 1 Dec 2016

Ünal Sevim, Gönülal Deniz, Uçaktürk Ahmet, Siyah Bilgin Betül, Flanagan Sarah E, Gürbüz Fatih, Tayfun Meltem, Elmaoğulları Selin, Araslı Aslıhan, Demirel Fatma, Ellard Sian, Hussain Khalid

Abstract excerpt

Congenital hyperinsulinism (CHI) is the most common cause of neonatal persistent hypoglycemia caused by mutations in nine known genes. Early diagnosis and treatment are important to prevent brain injury. The clinical presentation and response to pharmacological therapy may vary depending on the underlying pathology. Genetic analysis is important in the diagnosis, treatment, patient follow-up, and prediction of...

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Source

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Identifiers

PMID: 27181099
DOI: 10.4274/jcrpe.2773
PMCID: PMC5198009

Genes

KCNJ11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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