Severe developmental delay, epilepsy and neonatal diabetes (DEND) syndrome: a case report
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...
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| Format: | Article |
| Language: | English English |
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ASEAN Federation of Endocrine Societies
2020
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| Online Access: | http://irep.iium.edu.my/80977/ 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 |
| _version_ | 1848789056394100736 |
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| author | Muhd Helmi, Muhd Alwi Hussain, Suhaimi |
| author_facet | Muhd Helmi, Muhd Alwi Hussain, Suhaimi |
| author_sort | Muhd Helmi, Muhd Alwi |
| building | IIUM Repository |
| collection | Online Access |
| description | 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. |
| first_indexed | 2025-11-14T17:50:39Z |
| format | Article |
| id | iium-80977 |
| institution | International Islamic University Malaysia |
| institution_category | Local University |
| language | English English |
| last_indexed | 2025-11-14T17:50:39Z |
| publishDate | 2020 |
| publisher | ASEAN Federation of Endocrine Societies |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | iium-809772020-08-27T07:10:25Z http://irep.iium.edu.my/80977/ Severe developmental delay, epilepsy and neonatal diabetes (DEND) syndrome: a case report Muhd Helmi, Muhd Alwi Hussain, Suhaimi RJ Pediatrics 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. ASEAN Federation of Endocrine Societies 2020-05 Article PeerReviewed application/pdf en http://irep.iium.edu.my/80977/2/699-Article%20Text-10041-1-10-20200530.pdf application/pdf en http://irep.iium.edu.my/80977/3/Scopus%20-%20Document%20details.pdf Muhd Helmi, Muhd Alwi and Hussain, Suhaimi (2020) Severe developmental delay, epilepsy and neonatal diabetes (DEND) syndrome: a case report. Journal of the ASEAN Federation of Endocrine Societies, 35 (1). pp. 125-128. ISSN 0857-1074 E-ISSN 2308-118x https://asean-endocrinejournal.org/index.php/JAFES/article/view/699 10.15605/jafes.035.01.22 |
| spellingShingle | RJ Pediatrics Muhd Helmi, Muhd Alwi Hussain, Suhaimi Severe developmental delay, epilepsy and neonatal diabetes (DEND) syndrome: a case report |
| title | Severe developmental delay, epilepsy and neonatal diabetes (DEND) syndrome: a case report |
| title_full | Severe developmental delay, epilepsy and neonatal diabetes (DEND) syndrome: a case report |
| title_fullStr | Severe developmental delay, epilepsy and neonatal diabetes (DEND) syndrome: a case report |
| title_full_unstemmed | Severe developmental delay, epilepsy and neonatal diabetes (DEND) syndrome: a case report |
| title_short | Severe developmental delay, epilepsy and neonatal diabetes (DEND) syndrome: a case report |
| title_sort | severe developmental delay, epilepsy and neonatal diabetes (dend) syndrome: a case report |
| topic | RJ Pediatrics |
| url | http://irep.iium.edu.my/80977/ http://irep.iium.edu.my/80977/ http://irep.iium.edu.my/80977/ 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 |