Update of variants identified in the pancreatic β‐cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

E De Franco, C Saint‐Martin, K Brusgaard… - Human …, 2020 - Wiley Online Library
The most common genetic cause of neonatal diabetes and hyperinsulinism is pathogenic
variants in ABCC8 and KCNJ11. These genes encode the subunits of the β‐cell ATP …

[HTML][HTML] Potassium channels in behavioral brain disorders. Molecular mechanisms and therapeutic potential: a narrative review.

KA Alam, P Svalastoga, A Martinez, JC Glennon… - Neuroscience & …, 2023 - Elsevier
Abstract Potassium channels (K+-channels) selectively control the passive flow of potassium
ions across biological membranes and thereby also regulate membrane excitability. Genetic …

Therapies and outcomes of congenital hyperinsulinism‐induced hypoglycaemia

I Banerjee, M Salomon‐Estebanez, P Shah… - Diabetic …, 2019 - Wiley Online Library
Congenital hyperinsulinism is a rare disease, but is the most frequent cause of persistent
and severe hypoglycaemia in early childhood. Hypoglycaemia caused by excessive and …

New insights into KATP channel gene mutations and neonatal diabetes mellitus

T Pipatpolkai, S Usher, PJ Stansfeld… - Nature Reviews …, 2020 - nature.com
The ATP-sensitive potassium channel (KATP channel) couples blood levels of glucose to
insulin secretion from pancreatic β-cells. KATP channel closure triggers a cascade of events …

Congenital hyperinsulinism: current laboratory-based approaches to the genetic diagnosis of a heterogeneous disease

TI Hewat, MB Johnson, SE Flanagan - Frontiers in Endocrinology, 2022 - frontiersin.org
Congenital hyperinsulinism is characterised by the inappropriate release of insulin during
hypoglycaemia. This potentially life-threatening disorder can occur in isolation, or present as …

Risk factors for adverse neurodevelopment in transient or persistent congenital hyperinsulinism

M Roeper, R Salimi Dafsari, H Hoermann… - Frontiers in …, 2020 - frontiersin.org
Objective Aim was to identify hypotheses why adverse neurodevelopment still occurs in
children with transient or persistent hyperinsulinism despite improvements in long-term …

Rate of serious adverse events associated with diazoxide treatment of patients with hyperinsulinism

P Thornton, L Truong, C Reynolds, T Hamby… - Hormone research in …, 2019 - karger.com
Introduction: Diazoxide is the first line and only Federal Drug Agency approved
pharmacological agent for the treatment of hyperinsulinism. Its use has increased over the …

Long-term outcome and treatment in persistent and transient congenital hyperinsulinism: a Finnish population-based study

JME Männistö, J Jääskeläinen… - The Journal of …, 2021 - academic.oup.com
Context The management of congenital hyperinsulinism (CHI) has improved. Objective To
examine the treatment and long-term outcome of Finnish patients with persistent and …

Latitudinal differences on the global epidemiology of infantile spasms: systematic review and meta-analysis

JL Jia, S Chen, V Sivarajah, D Stephens… - Orphanet Journal of rare …, 2018 - Springer
Background Infantile spasms represent the catastrophic, age-specific seizure type
associated with acute and long-term neurological morbidity. However, due to rarity and …

Genetic characteristics of patients with congenital hyperinsulinism

ME Vajravelu, DD De León - Current opinion in pediatrics, 2018 - journals.lww.com
Genetic characteristics of patients with congenital hyperins... : Current Opinion in Pediatrics
Genetic characteristics of patients with congenital hyperinsulinism : Current Opinion in …