Abstract:
:The ATP-sensitive potassium (K(ATP)) channel is composed of two subunits SUR1 and Kir6.2. The channel is key for glucose stimulated insulin release from the pancreatic beta cell. Activating mutations have been identified in the genes encoding these subunits, ABCC8 and KCNJ11, and account for approximately 40% of permanent neonatal diabetes cases. The majority of patients with a K(ATP) mutation present with isolated diabetes however some have presented with the Developmental delay, Epilepsy and Neonatal Diabetes syndrome. This review focuses on mutations in the K(ATP) channel which result in permanent neonatal diabetes, we review the clinical and functional effects as well as the implications for treatment.
journal_name
Rev Endocr Metab Disordjournal_title
Reviews in endocrine & metabolic disordersauthors
Edghill EL,Flanagan SE,Ellard Sdoi
10.1007/s11154-010-9149-xsubject
Has Abstractpub_date
2010-09-01 00:00:00pages
193-8issue
3eissn
1389-9155issn
1573-2606journal_volume
11pub_type
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