KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features-Reference-Cited by-同舟云学术

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features

Published:2006-05-03 Issue:7 Volume:14 Page:824-830
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Gloyn Anna L,Diatloff-Zito Catherine,Edghill Emma L,Bellanné-Chantelot Christine,Nivot Sylvie,Coutant Régis,Ellard Sian,Hattersley Andrew T,Robert Jean Jacques

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5201629.pdf

Reference22 articles.

1. Gloyn AL, Pearson ER, Antcliff JF et al: Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med 2004; 350: 1838–1849.

2. Gloyn AL, Reimann F, Girard C et al: Relapsing diabetes can result from moderately activating mutations in KCNJ11. Hum Mol Genet 2005; 14: 925–934.

3. Sagen JV, Raeder H, Hathout E et al: Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. Diabetes 2004; 53: 2713–2718.

4. Vaxillaire M, Populaire C, Buisiah K et al: Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. Diabetes 2004; 53: 2719–2722.

5. Massa O, Iafusco D, D'Amato E et al: KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. Hum Mutat 2004; 25: 22–27.

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