ArticleJournal of the ASEAN Federation of Endocrine Societies2020
Severe Developmental Delay, Epilepsy and Neonatal Diabetes (DEND) Syndrome: A Case Report.
Article in Journal of the ASEAN Federation of Endocrine Societies, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed.
- 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
- Development of IFrontiers in pharmacology · 2021Article
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Abstract
Developmental delay, Epilepsy and Neonatal Diabetes (DEND) syndrome is the most severe form of Permanent Neonatal Diabetes with KCNJ11 gene mutation which accounts for most of the cases. We report the first DEND syndrome in Malaysia with heterozygous missense mutation Q52R at KCNJ11 (Kir6.2) gene with delayed presentation beyond 6 months of age and failure to transition to glibenclamide. This report signifies the phenotypical variability among patients with the same genetic mutation and the different response to treatment.
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