Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Mar 2015

Harel Shira, Cohen Ana S A, Hussain Khalid, Flanagan Sarah E, Schlade-Bartusiak Kamilla, Patel Millan, Courtade Jaques, Li Jenny B W, Van Karnebeek Clara, Kurata Harley, Ellard Sian, Chanoine Jean-Pierre, Gibson William T

Abstract excerpt

BACKGROUND: Inheritance of two pathogenic ABCC8 alleles typically causes severe congenital hyperinsulinism. We describe a girl and her father, both homozygous for the same ABCC8 mutation, who presented with unusual phenotypes. METHODS: Single nucleotide polymorphism microarray and Sanger sequencing were performed. Western blot, rubidium efflux, and patch clamp recordings interrogated the expression and activity...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Arginine
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family

Share to Histidine

Share to Hyperglycemia

Share to Hypoglycemia

Share to Mutation, Missense

Share to Sulfonylurea Receptors

Source

Identifiers

PMID: 25720052
DOI: 10.1515/jpem-2014-0265

Genes

ABCC8
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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.PMID 25720052Read ↗

Genetic and Clinical Characterisation of Congenital Hyperinsulinism: Identification of a Novel ABCC8 Variant.Semantic proximity Read ↗

Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutations.Semantic proximity Read ↗

A novel ABCC8 mutation illustrates the variability of the diabetes phenotypes associated with a single mutation.Semantic proximity Read ↗

Congenital Hyperinsulinism Caused by Mutations in ABCC8 Gene Associated with Early-Onset Neonatal Hypoglycemia: Genetic Heterogeneity Correlated with Phenotypic Variability.Semantic proximity Read ↗

A novel mutation in ABCC8 gene in a newborn with congenital hyperinsulinism -a case report.Semantic proximity Read ↗

Novel dominant KATP channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotypingSemantic proximity Read ↗

ABCC8 R1420H Loss-of-Function Variant in a Southwest American Indian Community: Association With Increased Birth Weight and Doubled Risk of Type 2 Diabetes.Semantic proximity Read ↗

Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia.Semantic proximity Read ↗

Prematurity, macrosomia, hyperinsulinaemic hypoglycaemia and a dominant ABCC8 gene mutation.Semantic proximity Read ↗

Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.Semantic proximity Read ↗

Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations.Semantic proximity Read ↗

Hyperinsulinemic Hypoglycemia of Infancy due to Novel HADH Mutation in Two Siblings.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.