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

Neurology

Volumn 69, Issue 13, 2007, Pages 1342-1349

  Shimomura, K ^a   Horster F ^b   De Wet, H ^a   Flanagan, S E ^c   Ellard, S ^c   Hattersley, A T ^c   Wolf, N I ^b   Ashcroft, F ^a   Ebinger, F ^b  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF HEIDELBERG   (Germany)

^c PENINSULA MEDICAL SCHOOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GLIBENCLAMIDE; INSULIN; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; LAMOTRIGINE; SULFONYLUREA; TOLBUTAMIDE;

ABDOMINAL PAIN; ARTICLE; CASE REPORT; CHILD; DEVELOPMENTAL DELAY EPILEPSY AND NEONATAL DIABETES; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DNA DETERMINATION; DRUG DOSE INCREASE; DRUG DOSE REDUCTION; DRUG WITHDRAWAL; EARLY DIAGNOSIS; EPILEPSY; GENE MUTATION; GENETIC SCREENING; HETEROLOGOUS EXPRESSION; HETEROZYGOSITY; HUMAN; JUVENILE DIABETES MELLITUS; MALE; MEMBRANE CURRENT; MUTATIONAL ANALYSIS; POTASSIUM CHANNELOPATHY; PRIORITY JOURNAL; SCREENING TEST; THERAPY EFFECT; TREATMENT OUTCOME; TREATMENT RESPONSE; WHOLE CELL; WILD TYPE; XENOPUS;

EID: 34748869665     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000268488.51776.53     Document Type: Article

References (41)

1. Gloyn AL. Glucokinase (GCK) mutations in hyperand hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy. Hum Mutat 2003;22:353-362.
2. Gloyn AL, Pearson ER, Antcliff JF, et al. Activating mutations in the ATP-sensitive potassium channel subunit Kir6.2 gene are associated with permanent neonatal diabetes. N Engl J Med 2004;350:1838-1849.
3. Ashcroft FM AT. P-sensitive potassium channelopathies: focus on insulin secretion. J Clin Invest 2005;115:2047-2058.
4. Hattersley AT, Ashcroft FM. Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights and new therapy. Diabetes 2005;54:2503-2513.
5. Babenko AP, Polak M, Cave H, et al. Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. N Engl J Med 2006;355:456-466.
6. Proks P, Arnold AL, Bruining J, et al. A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. Hum Mol Genet 2006;15:1793-1800.
7. Temple IK, James RS, Crolla JA, et al. An imprinted gene (s) for diabetes? Nat Genet 1995;9:110-112.
8. 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.
9. Vaxillaire M, Populaire C, Busiah 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.
10. Nahi-Buisson N, Bellanne-Chantelot C, Eisermann M, et al. Early epileptic encephalopathy and neonatal diabetes, associated with mutation in ATP-sensitive potassium channel, Kir6.2. Am J Hum Genet 2004;74 Suppl 1:323.
11. Masia R, Koster JC, Tumini S, et al. An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes. Diabetes 2007;56:328-336.
12. Gloyn AL, Diatloff-Zito C, Edghill EL, et al. KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features. Eur J Hum Genet 2006;14:824-830.
13. Nichols CG, Shyng SL, Nestorowicz A, et al. Adenosine diphosphate as an intracellular regulator of insulin secretion. Science 1996;272:1785-1787.
14. + channels in the absence of the sulphonylurea receptor. Nature 1997;387:179-183.
15. Proks P, Antcliff JF, Lippiat J, Gloyn AL, Hattersley AT, Ashcroft FM. Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. Proc Natl Acad Sci USA 2004;101:17539-17544.
16. Proks P, Girard C, Haider S, et al. A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome. EMBO Rep 2005;6:470-475.
17. Girard CA, Shimomura K, Proks P, et al. Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes. Pflügers Arch 2006;453:323-332.
18. Tammaro P, Girard C, Molnes J, Njølstad PR, Ashcroft FM. Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions. EMBO J 2005;24:2318-2330.
19. Proks P, Girard C, Ashcroft FM. Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP. Hum Mol Genet 2005;14:2717-2726.
20. Tarasov A, Welters HJ, Senkel S, et al. A Kir6.2 mutation causing neonatal diabetes impairs electrical activity and insulin secretion from INS-1 beta cells. Diabetes 2006;55:3075-3082.
21. Cole TJ, Freeman JV, Preece MA. British 1990 growth reference centiles for weight, height, body mass index and head circumference fitted by maximum penalized likelihood. Stat Med 1998;17:407-429.
22. Antcliff JF, Haider S, Proks P, Sansom MSP, Ashcroft FM. Functional analysis of a structural model of the ATP-binding site of the KATP channel Kir6.2 subunit. EMBO J 2005;24:229-239.
23. Kuo A, Gulbis JM, Antcliff JF, et al. Crystal structure of the potassium channel KirBac1.1 in the closed state. Science 2003;300:1922-1926.
24. Pearson ER, Flechtner I, Njølståd PR, et al. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med 2006;355:467-477.
25. Zung A, Glaser B, Nimri R, Zadik Z. Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2. J Clin Endocrinol Metab 2004;89:5504-5507.
26. Slingerland AS, Nuboer R, Hadders-Algra M, Hattersley AT, Bruining GJ. 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. Diabetologia 2006;49:2559-2563.
27. ATP channel gating: toward a unified molecular understanding. Biophys J 2000;78:2334-2348.
28. Zerangue N, Schwappach B, Jan YN, Jan LY. A new ER trafficking signal regulates the subunit stoichiometry of plasma membrane K(ATP) channels. Neuron 1999;22:537-548.
29. + channel in rat brain. Brain Res 1998;814:41-54.
30. Karschin C, Ecke C, Ashcroft FM, Karschin A. Overlapping distribution of K(ATP) channel-forming Kir6.2 subunit and the sulfonylurea receptor SUR1 in rodent brain. FEBS Lett 1997;401:59-64.
31. Engelborghs S, D'Hooge R, de Deyn PP. Pathophysiology of epilepsy. Acta Neurol Belge 2000;100:201-213.
32. McCormick DA, Contreras D. On the cellular and network bases of epileptic seizures. Annu Rev Physiol 2001;63:815-846.
33. Stafstrom CE. Epilepsy: a review of selected clinical syndromes and advances in basic science. J Cereb Blood Flow Metab 2006;26:983-1004.
34. Tan NC, Mulley JC, Scheffer IE. Genetic dissection of the common epilepsies. Curr Opin Neurol 2006;19:157-163.
35. Zawar C, Plant TD, Schirra C, Konnerth A, Neumcke B. Cell-type specific expression of ATP-sensitive potassium channels in the rat hippocampus. J Physiol 1999;514:327-341.
36. Griesemer D, Zawar C, Neumcke B. Cell-type specific depression of neuronal excitability in rat hippocampus by activation of ATP-sensitive potassium channels. Eur Biophys J 2002;31:467-477.
37. Rogawski MA, Löscher W. The neurobiology of antiepileptic drugs. Nat Rev Neurosci 2004;5:553-564.
38. Perucca E. An introduction to antiepileptic drugs. Epilepsia 2005;46 Suppl. 4:31-37.
39. Du W, Bautista JF, Yang H, et al. Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. Nat Gen 2005;37:733-738.
40. Brenner R, Chen QH, Vilaythong A, Toney GM, Noebels JL, Aldrich RW. BK channel 4 subunit reduces dentate gyrus excitability and protects against temporal lobe seizures. Nat Neurosci 2005;8:1752-1759.
41. ATP channels. J Physiol 2006;571:3-14.