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Developmental delay, epilepsy, and neonatal diabetes

MedGen UID:
340009
•Concept ID:
C1853564
•
Disease or Syndrome
Synonym: Developmental Delay, Epilepsy, and Neonatal Diabetes

Professional guidelines

PubMed

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.
Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT
Diabetologia 2006 Jun;49(6):1190-7. Epub 2006 Apr 12 doi: 10.1007/s00125-006-0246-z. PMID: 16609879
Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment.
Slingerland AS, Hattersley AT
Ann Med 2005;37(3):186-95. doi: 10.1080/07853890510007287. PMID: 16019717

Recent clinical studies

Etiology

Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center.
Kim JH, Lee Y, Choi Y, Kim GH, Yoo HW, Choi JH
BMC Pediatr 2021 Mar 4;21(1):108. doi: 10.1186/s12887-021-02575-6. PMID: 33663443Free PMC Article
Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation.
Evliyaoğlu O, Ercan O, Ataoğlu E, Zübarioğlu Ü, Özcabı B, Dağdeviren A, Erdoğan H, De Franco E, Ellard S
J Clin Res Pediatr Endocrinol 2018 Jun 1;10(2):168-174. Epub 2017 Sep 25 doi: 10.4274/jcrpe.5162. PMID: 28943513Free PMC Article
Human K(ATP) channelopathies: diseases of metabolic homeostasis.
Olson TM, Terzic A
Pflugers Arch 2010 Jul;460(2):295-306. Epub 2009 Dec 24 doi: 10.1007/s00424-009-0771-y. PMID: 20033705Free PMC Article
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 doi: 10.2337/db06-1540. PMID: 17389331
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.
Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT
Diabetologia 2006 Jun;49(6):1190-7. Epub 2006 Apr 12 doi: 10.1007/s00125-006-0246-z. PMID: 16609879

Diagnosis

Methods for Characterizing Disease-Associated ATP-Sensitive Potassium Channel Mutations.
Kandasamy B, Shyng SL
Methods Mol Biol 2018;1684:85-104. doi: 10.1007/978-1-4939-7362-0_8. PMID: 29058186
Molecular and clinical features of K(ATP) -channel neonatal diabetes mellitus in Japan.
Hashimoto Y, Dateki S, Hirose M, Satomura K, Sawada H, Mizuno H, Sugihara S, Maruyama K, Urakami T, Sugawara H, Shirai K, Yorifuji T
Pediatr Diabetes 2017 Nov;18(7):532-539. Epub 2016 Sep 29 doi: 10.1111/pedi.12447. PMID: 27681997
Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.
Edghill EL, Flanagan SE, Ellard S
Rev Endocr Metab Disord 2010 Sep;11(3):193-8. doi: 10.1007/s11154-010-9149-x. PMID: 20922570
The K(ATP) channel and neonatal diabetes.
Shimomura K
Endocr J 2009;56(2):165-75. Epub 2008 Jun 20 doi: 10.1507/endocrj.k08e-160. PMID: 18566517
Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.
Hattersley AT, Ashcroft FM
Diabetes 2005 Sep;54(9):2503-13. doi: 10.2337/diabetes.54.9.2503. PMID: 16123337

Therapy

Molecular and clinical features of K(ATP) -channel neonatal diabetes mellitus in Japan.
Hashimoto Y, Dateki S, Hirose M, Satomura K, Sawada H, Mizuno H, Sugihara S, Maruyama K, Urakami T, Sugawara H, Shirai K, Yorifuji T
Pediatr Diabetes 2017 Nov;18(7):532-539. Epub 2016 Sep 29 doi: 10.1111/pedi.12447. PMID: 27681997
Permanent Neonatal Diabetes (DEND Syndrome).
Khan SA, Parkash A, Ibrahim M
J Coll Physicians Surg Pak 2016 Nov;26(11):114-115. PMID: 28666500
Neonatal diabetes with intractable epilepsy: DEND syndrome.
Singh P, Rao SC, Parikh R
Indian J Pediatr 2014 Dec;81(12):1387-8. Epub 2014 Jun 10 doi: 10.1007/s12098-014-1486-4. PMID: 24912436
The K(ATP) channel and neonatal diabetes.
Shimomura K
Endocr J 2009;56(2):165-75. Epub 2008 Jun 20 doi: 10.1507/endocrj.k08e-160. PMID: 18566517
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 doi: 10.2337/db06-1540. PMID: 17389331

Prognosis

Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation.
Evliyaoğlu O, Ercan O, Ataoğlu E, Zübarioğlu Ü, Özcabı B, Dağdeviren A, Erdoğan H, De Franco E, Ellard S
J Clin Res Pediatr Endocrinol 2018 Jun 1;10(2):168-174. Epub 2017 Sep 25 doi: 10.4274/jcrpe.5162. PMID: 28943513Free PMC Article
Permanent Neonatal Diabetes (DEND Syndrome).
Khan SA, Parkash A, Ibrahim M
J Coll Physicians Surg Pak 2016 Nov;26(11):114-115. PMID: 28666500
Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia.
Habeb AM, Al-Magamsi MS, Eid IM, Ali MI, Hattersley AT, Hussain K, Ellard S
Pediatr Diabetes 2012 Sep;13(6):499-505. Epub 2011 Nov 8 doi: 10.1111/j.1399-5448.2011.00828.x. PMID: 22060631
Human K(ATP) channelopathies: diseases of metabolic homeostasis.
Olson TM, Terzic A
Pflugers Arch 2010 Jul;460(2):295-306. Epub 2009 Dec 24 doi: 10.1007/s00424-009-0771-y. PMID: 20033705Free PMC Article
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. doi: 10.2337/db06-1275. PMID: 17259376

Clinical prediction guides

Molecular and clinical features of K(ATP) -channel neonatal diabetes mellitus in Japan.
Hashimoto Y, Dateki S, Hirose M, Satomura K, Sawada H, Mizuno H, Sugihara S, Maruyama K, Urakami T, Sugawara H, Shirai K, Yorifuji T
Pediatr Diabetes 2017 Nov;18(7):532-539. Epub 2016 Sep 29 doi: 10.1111/pedi.12447. PMID: 27681997
Human K(ATP) channelopathies: diseases of metabolic homeostasis.
Olson TM, Terzic A
Pflugers Arch 2010 Jul;460(2):295-306. Epub 2009 Dec 24 doi: 10.1007/s00424-009-0771-y. PMID: 20033705Free PMC 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 doi: 10.1210/jc.2007-1826. PMID: 18073297Free PMC Article
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. doi: 10.2337/db06-1275. PMID: 17259376
Activating mutations in the gene encoding Kir6.2 alter fetal and postnatal growth and also cause neonatal diabetes.
Slingerland AS, Hattersley AT
J Clin Endocrinol Metab 2006 Jul;91(7):2782-8. Epub 2006 Apr 24 doi: 10.1210/jc.2006-0201. PMID: 16636122

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