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Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11

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Abstract

The ATP-sensitive potassium (KATP) 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 KATP 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 KATP channel which result in permanent neonatal diabetes, we review the clinical and functional effects as well as the implications for treatment.

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Acknowledgements

We thank Professor Frances Ashcroft for her contribution to Fig. 3. SE is a core member of the Peninsula NIHR Clinical Research Facility. EE is supported by the European Union Integrated Project EURODIA (LSHM-CT-2006-518153 in the Framework Programme 6 of the European-Community). SEF is the Peninsula College of Medicine and Dentistry Sir Graham Wilkins Research Fellow.

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  1. Institute of Biomedical and Clinical Science, Peninsula College of Medicine and Dentistry, University of Exeter, Barrack Road, Exeter, UK, EX2 5DW

    Emma L. Edghill, Sarah E. Flanagan & Sian Ellard

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  1. Emma L. Edghill
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  2. Sarah E. Flanagan
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  3. Sian Ellard
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Correspondence to Sian Ellard.

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Edghill, E.L., Flanagan, S.E. & Ellard, S. Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11 . Rev Endocr Metab Disord 11, 193–198 (2010). https://doi.org/10.1007/s11154-010-9149-x

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