Severe developmental delay, epilepsy and neonatal diabetes (DEND) syndrome: a case report

• Main Authors: Muhd Helmi, Muhd Alwi, Hussain, Suhaimi
• Format: Article
• Language: English; English
• Published: ASEAN Federation of Endocrine Societies 2020
• Subjects: RJ Pediatrics
• Online Access: http://irep.iium.edu.my/80977/2/699-Article%20Text-10041-1-10-20200530.pdf; http://irep.iium.edu.my/80977/3/Scopus%20-%20Document%20details.pdf; http://irep.iium.edu.my/80977/; https://asean-endocrinejournal.org/index.php/JAFES/article/view/699

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 wi...