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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

A. S. Slingerland, R. Nuboer, M. Hadders-Algra, A. T. Hattersley and G. J. Bruining

Diabetologia, 2006, Volume 49, Number 11, Pages 2559-2563

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Journal Article

Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation

C. Colombo, M. Delvecchio, C. Zecchino, M. F. Faienza and L. Cavallo, et al.

Diabetologia, 2005, Volume 48, Number 11, Pages 2439-2441

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Journal Article

No beta cell desensitisation after a median of 68 months on glibenclamide therapy in patients with KCNJ11-associated permanent neonatal diabetes

D. Iafusco, C. Bizzarri, F. Cadario, R. Pesavento and G. Tonini, et al.

Diabetologia, 2011, Volume 54, Number 10, Pages 2736-2738

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Journal Article

Successful transfer to sulfonylurea therapy in an infant with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome and a novel ABCC8 gene mutation

N. Zwaveling-Soonawala, E. E. Hagebeuk, A. S. Slingerland, C. Ris-Stalpers and T. Vulsma, et al.

Diabetologia, 2011, Volume 54, Number 2, Pages 469-471

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Journal Article

Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype

S. E. Flanagan, E. L. Edghill, A. L. Gloyn, S. Ellard and A. T. Hattersley

Diabetologia, 2006, Volume 49, Number 6, Pages 1190-1197

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Journal Article

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

P. Tammaro, S. E. Flanagan, B. Zadek, S. Srinivasan and H. Woodhead, et al.

Diabetologia, 2008, Volume 51, Number 5, Pages 802-810

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Journal Article

Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11

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

Reviews in Endocrine & Metabolic Disorders, 2010, Volume 11, Number 3, Pages 193-198

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Journal Article

Transition from insulin to sulfonylurea in a child with diabetes due to a mutation in KCNJ11 encoding Kir6.2—initial and long-term response to sulfonylurea therapy

Verena M. Wagner, Britta Kremke, Olaf Hiort, Sarah E. Flanagan and Ewan R. Pearson

European Journal of Pediatrics, 2009, Volume 168, Number 3, Pages 359-361

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Journal Article

Permanent neonatal diabetes due to KCNJ11 gene mutation

S. Letha, Darly Mammen and Joseph J. Valamparampil

Indian Journal of Pediatrics, 2007, Volume 74, Number 10, Pages 947-949

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Journal Article

Neonatal diabetes mellitus: a disease linked to multiple mechanisms

Michel Polak and Hélène Cavé

Orphanet Journal of Rare Diseases, 2007, Volume 2, Number 1, 12

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