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KATP Channel Mutations and Neonatal Diabetes.
Shimomura K, Maejima Y. Shimomura K, et al. Intern Med. 2017 Sep 15;56(18):2387-2393. doi: 10.2169/internalmedicine.8454-16. Epub 2017 Aug 21. Intern Med. 2017. PMID: 28824061 Free PMC article. Review.
In some mutations, diabetes is accompanied by severe neurological symptoms [developmental delay, epilepsy, neonatal diabetes (DEND) syndrome]. This review focuses on mutations of Kir6.2, the pore-forming subunit and sulfonylurea receptor (SUR) 1, the regulatory subu …
In some mutations, diabetes is accompanied by severe neurological symptoms [developmental delay, epilepsy, neonatal diabetes (DEND) …
The K(ATP) channel and neonatal diabetes.
Shimomura K. Shimomura K. Endocr J. 2009;56(2):165-75. doi: 10.1507/endocrj.k08e-160. Epub 2008 Jun 20. Endocr J. 2009. PMID: 18566517 Free article. Review.
In some patients, these mutations may also affect K(ATP) channel function in muscles, nerves and brain which can result in a severe disease termed DEND syndrome (Developmental delay, Epilepsy and Neonatal Diabetes). ...
In some patients, these mutations may also affect K(ATP) channel function in muscles, nerves and brain which can result in a severe disease …
New treatment paradigms in neonatal metabolic epilepsies.
Pearl PL. Pearl PL. J Inherit Metab Dis. 2009 Apr;32(2):204-13. doi: 10.1007/s10545-009-1045-8. Epub 2009 Feb 24. J Inherit Metab Dis. 2009. PMID: 19234868 Review.
A vital potassium channel regulated by serum ATP/ADP ratios in the pancreas and brain may be mutated with a resultant neuroendocrinopathy characterized by development delay, epilepsy, and neonatal diabetes (DEND). This requires oral hypoglycaemic therapy, and not insulin, …
A vital potassium channel regulated by serum ATP/ADP ratios in the pancreas and brain may be mutated with a resultant neuroendocrinopathy ch …
Human K(ATP) channelopathies: diseases of metabolic homeostasis.
Olson TM, Terzic A. Olson TM, et al. Pflugers Arch. 2010 Jul;460(2):295-306. doi: 10.1007/s00424-009-0771-y. Epub 2009 Dec 24. Pflugers Arch. 2010. PMID: 20033705 Free PMC article. Review.
Moreover, KATP channel defects underlie the triad of developmental delay, epilepsy, and neonatal diabetes (DEND syndrome). KATP channelopathies implicated in patients with mechanical and/or electrical heart disease include dilated cardiomyopathy (with ventricular ar …
Moreover, KATP channel defects underlie the triad of developmental delay, epilepsy, and neonatal diabetes (DEND syndrome). KAT …
Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.
Hattersley AT, Ashcroft FM. Hattersley AT, et al. Diabetes. 2005 Sep;54(9):2503-13. doi: 10.2337/diabetes.54.9.2503. Diabetes. 2005. PMID: 16123337 Review.
There is a striking genotype-phenotype relationship with specific Kir6.2 mutations being associated with transient neonatal diabetes, permanent neonatal diabetes alone, and a novel syndrome characterized by developmental delay, epilepsy, and neonatal diabetes (DEND) …
There is a striking genotype-phenotype relationship with specific Kir6.2 mutations being associated with transient neonatal diabetes, perman …
Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment.
Slingerland AS, Hattersley AT. Slingerland AS, et al. Ann Med. 2005;37(3):186-95. doi: 10.1080/07853890510007287. Ann Med. 2005. PMID: 16019717 Review.
The mutated KATP channels do not close in the presence of adenosine triphosphate (ATP) so the beta-cell membrane is hyperpolarized and insulin secretion does not occur. Some patients have DEND syndrome (developmental delay, epilepsy and neonatal diabetes) with the n …
The mutated KATP channels do not close in the presence of adenosine triphosphate (ATP) so the beta-cell membrane is hyperpolarized and insul …