Associated Papers
Neonatal diabetes in Ireland over the past 19 years: Clinical presentation, management, genetics, and outcomes.
Woon Y et al.
Hormone Research in Paediatrics, 2026
Anxiety, social responsiveness, and grit among patients with KCNJ11-related neonatal diabetes compared to unaffected siblings.
Desai JM et al.
Acta Diabetologica, 2026
Targeted analysis of whole exome sequencing in Thai patients with neonatal diabetes.
Plengvidhya N et al.
Human Genetics, 2026
Behavioral and epileptic phenotypes in a CHD2-related developmental delay model.
Mavashov A et al.
Epilepsia, 2025
Long-Term Seizure and Neurodevelopmental Outcomes of Three Children with Developmental Delay, Epilepsy, and Neonatal Diabetes (DEND) Syndrome after Early Initiation of Sulphonylurea.
Baby N et al.
Annals of Indian Academy of Neurology, 2025
Safety and Effectiveness of Oral Glyburide Suspension in Neonatal Diabetes Mellitus: French Retrospective Cohort Study.
Ben Rhaiem I et al.
Journal of the Endocrine Society, 2025
Bayliss-Starling Prize Lecture: KATP channel pathophysiology - a whole-body odyssey.
Nichols CG
The Journal of Physiology, 2025
The Association between PTPN22 SNPs and susceptibility to type 1 diabetes: An updated meta-analysis.
Su Y et al.
Plos One, 2025
Clinical and Genetic Characteristics and Outcome in Patients with Neonatal Diabetes Mellitus from a Low Middle-income Country
Kumarasiri IM et al.
Journal of Clinical Research in Pediatric Endocrinology, 2024
KATP channel mutation disrupts hippocampal network activity and nocturnal gamma shifts.
Burkart ME et al.
Brain : a Journal of Neurology, 2024
Genetic variant profiling of neonatal diabetes mellitus in Iranian patients: Unveiling 58 distinct variants in 14 genes.
Mianesaz H et al.
Journal of Diabetes Investigation, 2024
The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.
Rapini N et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
Potassium channels in behavioral brain disorders. Molecular mechanisms and therapeutic potential: A narrative review.
Alam KA et al.
Neuroscience and Biobehavioral Reviews, 2023
Transient Neonatal Diabetes Mellitus and Seizure with an Unknown Etiology.
Gunes SO et al.
Journal of Pediatric Genetics, 2023
KATP Channels and the Metabolic Regulation of Insulin Secretion in Health and Disease: The 2022 Banting Medal for Scientific Achievement Award Lecture.
Ashcroft FM
Diabetes, 2023
Neonatal and early-onset diabetes in Ukraine: Atypical features and mortality.
Globa E et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2023
Personalized Therapeutics for KATP-Dependent Pathologies.
Nichols CG
Annual Review of Pharmacology and Toxicology, 2023
Case report: Neonatal diabetes mellitus caused by KCNJ11 mutation presenting with intracranial hemorrhage.
Wu B et al.
Frontiers in Neurology, 2023
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.
Hopkins JJ et al.
Human Mutation, 2023
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
Clinical characteristics, growth patterns, and long-term diabetes complications of 24 patients with neonatal diabetes mellitus: A single center experience.
Mouler M et al.
Pediatric Diabetes, 2022
Functional Regulation of KATP Channels and Mutant Insight Into Clinical Therapeutic Strategies in Cardiovascular Diseases.
Wang Z et al.
Frontiers in Pharmacology, 2022
Cognitive deficits and impaired hippocampal long-term potentiation in KATP-induced DEND syndrome.
Yahil S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Developmental defects and impaired network excitability in a cerebral organoid model of KCNJ11 p.V59M-related neonatal diabetes.
Dalgin G et al.
Scientific Reports, 2021
The KCNJ11-E23K Gene Variant Hastens Diabetes Progression by Impairing Glucose-Induced Insulin Secretion.
Sachse G et al.
Diabetes, 2021
Structure based analysis of KATP channel with a DEND syndrome mutation in murine skeletal muscle.
Horita S et al.
Scientific Reports, 2021
Genotype and Phenotype Heterogeneity in Neonatal Diabetes: A Single Centre Experience in Turkey
Denkboy Öngen Y et al.
Journal of Clinical Research in Pediatric Endocrinology, 2021
Genotype-phenotype correlation of KATP channel gene defects causing permanent neonatal diabetes in Indian patients.
Gopi S et al.
Pediatric Diabetes, 2021
Continuous spectrum of glucose dysmetabolism due to the KCNJ11 gene mutation-Case reports and review of the literature.
He B et al.
Journal of Diabetes, 2021
The use of glimepiride for the treatment of neonatal diabetes mellitus caused by a novel mutation of the ABCC8 gene.
Qin X et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
Parental experiences of a diagnosis of neonatal diabetes and perceptions of newborn screening for glucose: a qualitative study.
Shepherd M et al.
Bmj Open, 2020
Genetic Spectrum of Neonatal Diabetes.
Kocova M
Balkan Journal of Medical Genetics : Bjmg, 2020
Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype.
Garcin L et al.
Pediatric Diabetes, 2020
Molecular and clinical characteristics of monogenic diabetes mellitus in southern Chinese children with onset before 3 years of age.
Lin Y et al.
Bmj Open Diabetes Research & Care, 2020
New insights into KATP channel gene mutations and neonatal diabetes mellitus.
Pipatpolkai T et al.
Nature Reviews. Endocrinology, 2020
Intellectual Disability in KATP Channel Neonatal Diabetes.
Svalastoga P et al.
Diabetes Care, 2020
Non classic presentations of a genetic mutation typically associated with transient neonatal diabetes.
Devaraja J et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2020
Intellectual Disability and Potassium Channelopathies: A Systematic Review.
Kessi M et al.
Frontiers in Genetics, 2020
Precision Medicine: Long-Term Treatment with Sulfonylureas in Patients with Neonatal Diabetes Due to KCNJ11 Mutations.
Letourneau LR et al.
Current Diabetes Reports, 2019
Dysregulation of Glucagon Secretion by Hyperglycemia-Induced Sodium-Dependent Reduction of ATP Production.
Knudsen JG et al.
Cell Metabolism, 2019
Cognitive, Neurological, and Behavioral Features in Adults With KCNJ11 Neonatal Diabetes.
Bowman P et al.
Diabetes Care, 2019
ATP-Sensitive Potassium Channels and Their Physiological and Pathophysiological Roles.
Tinker A et al.
Comprehensive Physiology, 2018
Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11.
Yoon JS et al.
Annals of Pediatric Endocrinology & Metabolism, 2018
Mutation screening of INS and KCNJ11 genes in Taiwanese children with type 1B diabetic onset before the age of 5 years.
Lo FS
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2018