ArticleJournal of Korean medical science2017
DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea.
Article in Journal of Korean medical science, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
13 citing papers in PubMed, 20 citations in OpenAlex.
- KCNJ11-associated infantile epileptic spasms syndrome and neonatal diabetes.Epileptic disorders : international epilepsy journal with videotape · 2026Article
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- An Interesting Case of Sulphonylurea-Responsive Permanent Neonatal Diabetes Mellitus With Potassium Channel Mutation.Cureus · 2026Article
- Long-Term Seizure and Neurodevelopmental Outcomes of Three Children with Developmental Delay, Epilepsy, and Neonatal Diabetes (DEND) Syndrome after Early Initiation of Sulphonylurea.Annals of Indian Academy of Neurology · 2025Article
- Neonatal and Syndromic Forms of Diabetes.Current diabetes reports · 2025Review
- Precision therapy for Developmental delay, Epilepsy and Neonatal Diabetes syndrome in the era of genomics.Medical journal, Armed Forces India · 2024Article
- Light-stimulated insulin secretion from pancreatic islet-like organoids derived from human pluripotent stem cells.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- Case report: Neonatal diabetes mellitus caused byFrontiers in neurology · 2023Article
- Epidemiology and phenotypes of diabetes in children and adolescents in non-European-origin populations in or from Western Pacific region.World journal of clinical pediatrics · 2022Article
- Cognitive deficits and impaired hippocampal long-term potentiation in KProceedings of the National Academy of Sciences of the United States of America · 2021Article
- Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center.BMC pediatrics · 2021Article
- Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of KFrontiers in endocrinology · 2021Article
- Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11.Annals of pediatric endocrinology & metabolism · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Permanent neonatal diabetes mellitus (PNDM) is caused by mutations in the ATP-sensitive potassium channel (KATP channel) subunits. Developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome is the most severe form of PNDM and is characterized by various neurologic features. We report on a patient with DEND syndrome following initial misdiagnosis with type 1 DM, who was successfully switched from insulin to sulfonylurea therapy. A 50-day-old male presented with fever and seizure, complicated by persistent hyperglycemia. Insulin therapy was initiated. At 10 months of age, the patient was unable to hold his head up and make eye contact with others. At 17.9 years of age, direct sequencing of KCNJ11 identified a heterozygous mutation of c.602G>A (p.R201H). Since then, treatment with gliclazide was initiated and the insulin dose was gradually reduced. Following 3 months, insulin was discontinued with a gliclazide dose of 2.4 mg/kg. The patient continued to have excellent glycemic control with a glycated hemoglobin (HbA1c) level of 5.8% after 5 months. However, the patient's psychomotor retardation did not improve. This study reports the first case of DEND syndrome in Korea caused by a KCNJ11 mutation and emphasizes the necessity to screen mutations in KATP channel genes in patients with neonatal diabetes.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.