PubMed

An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.

Masia R, Koster JC, Tumini S, Chiarelli F, Colombo C, Nichols CG, Barbetti F.

Diabetes. 2007 Feb;56(2):328-36.PMID: 17259376 [PubMed - indexed for MEDLINE]Related articlesFree article

Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.

Proks P, Antcliff JF, Lippiat J, Gloyn AL, Hattersley AT, Ashcroft FM.

Proc Natl Acad Sci U S A. 2004 Dec 14;101(50):17539-44. Epub 2004 Dec 6.PMID: 15583126 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.

Shimomura K, Hörster F, de Wet H, Flanagan SE, Ellard S, Hattersley AT, Wolf NI, Ashcroft F, Ebinger F.

Neurology. 2007 Sep 25;69(13):1342-9. Epub 2007 Jul 25.PMID: 17652641 [PubMed - indexed for MEDLINE]Related articles

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.

Babenko AP, Polak M, Cavé H, Busiah K, Czernichow P, Scharfmann R, Bryan J, Aguilar-Bryan L, Vaxillaire M, Froguel P.

N Engl J Med. 2006 Aug 3;355(5):456-66.PMID: 16885549 [PubMed - indexed for MEDLINE]Related articlesFree article

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.

Proks P, Arnold AL, Bruining J, Girard C, Flanagan SE, Larkin B, Colclough K, Hattersley AT, Ashcroft FM, Ellard S.

Hum Mol Genet. 2006 Jun 1;15(11):1793-800. Epub 2006 Apr 13.PMID: 16613899 [PubMed - indexed for MEDLINE]Related articlesFree article

A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM).

Masia R, De Leon DD, MacMullen C, McKnight H, Stanley CA, Nichols CG.

Diabetes. 2007 May;56(5):1357-62. Epub 2007 Feb 22.PMID: 17317760 [PubMed - indexed for MEDLINE]Related articlesFree article

Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene.

Slingerland AS, Nuboer R, Hadders-Algra M, Hattersley AT, Bruining GJ.

Diabetologia. 2006 Nov;49(11):2559-63. Epub 2006 Sep 19.PMID: 17047922 [PubMed - indexed for MEDLINE]Related articles

A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications.

Tammaro P, Flanagan SE, Zadek B, Srinivasan S, Woodhead H, Hameed S, Klimes I, Hattersley AT, Ellard S, Ashcroft FM.

Diabetologia. 2008 May;51(5):802-10. Epub 2008 Mar 12.PMID: 18335204 [PubMed - indexed for MEDLINE]Related articlesFree article

Analysis of two KCNJ11 neonatal diabetes mutations, V59G and V59A, and the analogous KCNJ8 I60G substitution: differences between the channel subtypes formed with SUR1.

Winkler M, Lutz R, Russ U, Quast U, Bryan J.

J Biol Chem. 2009 Mar 13;284(11):6752-62. Epub 2009 Jan 12.PMID: 19139106 [PubMed - indexed for MEDLINE]Related articles

Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.

Stanik J, Gasperikova D, Paskova M, Barak L, Javorkova J, Jancova E, Ciljakova M, Hlava P, Michalek J, Flanagan SE, Pearson E, Hattersley AT, Ellard S, Klimes I.

J Clin Endocrinol Metab. 2007 Apr;92(4):1276-82. Epub 2007 Jan 9.PMID: 17213273 [PubMed - indexed for MEDLINE]Related articlesFree article

Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes.

de Wet H, Rees MG, Shimomura K, Aittoniemi J, Patch AM, Flanagan SE, Ellard S, Hattersley AT, Sansom MS, Ashcroft FM.

Proc Natl Acad Sci U S A. 2007 Nov 27;104(48):18988-92. Epub 2007 Nov 19.PMID: 18025464 [PubMed - indexed for MEDLINE]Related articlesFree article

Functional effects of mutations at F35 in the NH2-terminus of Kir6.2 (KCNJ11), causing neonatal diabetes, and response to sulfonylurea therapy.

Proks P, Girard C, Baevre H, Njølstad PR, Ashcroft FM.

Diabetes. 2006 Jun;55(6):1731-7.PMID: 16731836 [PubMed - indexed for MEDLINE]Related articlesFree article

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, Howard N, Srinivasan S, Silva JM, Molnes J, Edghill EL, Frayling TM, Temple IK, Mackay D, Shield JP, Sumnik Z, van Rhijn A, Wales JK, Clark P, Gorman S, Aisenberg J, Ellard S, Njølstad PR, Ashcroft FM, Hattersley AT.

N Engl J Med. 2004 Apr 29;350(18):1838-49. Erratum in: N Engl J Med. 2004 Sep 30;351(14):1470. PMID: 15115830 [PubMed - indexed for MEDLINE]Related articlesFree article

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

Pearson ER, Flechtner I, Njølstad PR, Malecki MT, Flanagan SE, Larkin B, Ashcroft FM, Klimes I, Codner E, Iotova V, Slingerland AS, Shield J, Robert JJ, Holst JJ, Clark PM, Ellard S, Søvik O, Polak M, Hattersley AT; Neonatal Diabetes International Collaborative Group.

N Engl J Med. 2006 Aug 3;355(5):467-77.PMID: 16885550 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.

Shimomura K, Girard CA, Proks P, Nazim J, Lippiat JD, Cerutti F, Lorini R, Ellard S, Hattersley AT, Barbetti F, Ashcroft FM.

Diabetes. 2006 Jun;55(6):1705-12. Erratum in: Diabetes. 2007 Mar;56(3):897. Hattersely, Andrew T [corrected to Hattersley, Andrew T]. PMID: 16731833 [PubMed - indexed for MEDLINE]Related articlesFree article

Infantile spasms as an epileptic feature of DEND syndrome associated with an activating mutation in the potassium adenosine triphosphate (ATP) channel, Kir6.2.

Bahi-Buisson N, Eisermann M, Nivot S, Bellanné-Chantelot C, Dulac O, Bach N, Plouin P, Chiron C, de Lonlay P.

J Child Neurol. 2007 Sep;22(9):1147-50.PMID: 17890419 [PubMed - indexed for MEDLINE]Related articles

New ABCC8 mutations in relapsing neonatal diabetes and clinical features.

Vaxillaire M, Dechaume A, Busiah K, Cavé H, Pereira S, Scharfmann R, de Nanclares GP, Castano L, Froguel P, Polak M; SUR1-Neonatal Diabetes Study Group.

Diabetes. 2007 Jun;56(6):1737-41. Epub 2007 Mar 27.PMID: 17389331 [PubMed - indexed for MEDLINE]Related articlesFree article

The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy.

Koster JC, Cadario F, Peruzzi C, Colombo C, Nichols CG, Barbetti F.

J Clin Endocrinol Metab. 2008 Mar;93(3):1054-61. Epub 2007 Dec 11.PMID: 18073297 [PubMed - indexed for MEDLINE]Related articlesFree article

Sulfonylurea receptor 1 mutations that cause opposite insulin secretion defects with chemical chaperone exposure.

Pratt EB, Yan FF, Gay JW, Stanley CA, Shyng SL.

J Biol Chem. 2009 Mar 20;284(12):7951-9. Epub 2009 Jan 16.PMID: 19151370 [PubMed - indexed for MEDLINE]Related articles

Diabetes in very young children and mutations in the insulin-secreting cell potassium channel genes: therapeutic consequences.

Flechtner I, Vaxillaire M, Cavé H, Scharfmann R, Froguel P, Polak M.

Endocr Dev. 2007;12:86-98.PMID: 17923772 [PubMed - indexed for MEDLINE]Related articles