Literature DB >> 24912436

Neonatal diabetes with intractable epilepsy: DEND syndrome.

Poonam Singh1, Sudha Chandrashekhar Rao, Ruchi Parikh.   

Abstract

Permanent Neonatal Diabetes Mellitus (PNDM), is a rare monogenic disorder, caused by activating mutations of the KATP channel. The most severe clinical form of PNDM presents as Developmental delay, Epilepsy and Neonatal Diabetes (DEND) syndrome. Diagnosis is confirmed by genetic mutation testing. Oral sulfonylurea therapy improves neurological outcome.

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Year:  2014        PMID： 24912436     DOI： 10.1007/s12098-014-1486-4

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  10 in total

1.  Permanent neonatal diabetes mellitus: clinical presentation and epidemiology in Oman.

Authors:  B Bappal; P Raghupathy; V de Silva; S M Khusaiby
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  1999-05       Impact factor: 5.747

Review 2.  Current understanding of K ATP channels in neonatal diseases: focus on insulin secretion disorders.

Authors:  Yi Quan; Andrew Barszczyk; Zhong-ping Feng; Hong-shuo Sun
Journal:  Acta Pharmacol Sin       Date:  2011-05-23       Impact factor: 6.150

Review 3.  Neonatal Diabetes Mellitus -- genetic aspects 2004.

Authors:  Michel Polak; Julian Shield
Journal:  Pediatr Endocrinol Rev       Date:  2004-12

4.  Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years.

Authors:  Emma L Edghill; Anna L Gloyn; Kathleen M Gillespie; A Paul Lambert; Neil T Raymond; Peter G Swift; Sian Ellard; Edwin A M Gale; Andrew T Hattersley
Journal:  Diabetes       Date:  2004-11       Impact factor: 9.461

Review 5.  Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.

Authors:  Andrew T Hattersley; Frances M Ashcroft
Journal:  Diabetes       Date:  2005-09       Impact factor: 9.461

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

Authors:  Peter Proks; Jennifer F Antcliff; Jon Lippiat; Anna L Gloyn; Andrew T Hattersley; Frances M Ashcroft
Journal:  Proc Natl Acad Sci U S A       Date:  2004-12-06       Impact factor: 11.205

7.  Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations.

Authors:  Meena Rafiq; Sarah E Flanagan; Ann-Marie Patch; Beverley M Shields; Sian Ellard; Andrew T Hattersley
Journal:  Diabetes Care       Date:  2007-11-19       Impact factor: 19.112

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

Authors:  K Shimomura; F Hörster; H de Wet; S E Flanagan; S Ellard; A T Hattersley; N I Wolf; F Ashcroft; F Ebinger
Journal:  Neurology       Date:  2007-07-25       Impact factor: 9.910

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

Authors:  N Zwaveling-Soonawala; E E Hagebeuk; A S Slingerland; C Ris-Stalpers; T Vulsma; A S van Trotsenburg
Journal:  Diabetologia       Date:  2010-11-26       Impact factor: 10.122

10.  Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up.

Authors:  Susanne E Boonen; Deborah J G Mackay; Johanne M D Hahnemann; Louise Docherty; Karen Grønskov; Anna Lehmann; Lise G Larsen; Andreas P Haemers; Yves Kockaerts; Lutgarde Dooms; Dung Chí Vu; C T Bich Ngoc; Phuong Bich Nguyen; Olga Kordonouri; Frida Sundberg; Pinar Dayanikli; Vijith Puthi; Carlo Acerini; Ahmed F Massoud; Zeynep Tümer; I Karen Temple
Journal:  Diabetes Care       Date:  2012-11-12       Impact factor: 19.112
  10 in total
  4 in total

Review 1.  Infantile onset diabetes mellitus in developing countries - India.

Authors:  Poovazhagi Varadarajan
Journal:  World J Diabetes       Date:  2016-03-25

2.  First case of neonatal diabetes with KCNJ11 Q52R mutation successfully switched from insulin to sulphonylurea treatment.

Authors:  Sorin Ioacara; Sarah Flanagan; Elke Fröhlich-Reiterer; Robin Goland; Simona Fica
Journal:  J Diabetes Investig       Date:  2017-02-16       Impact factor: 4.232

Review 3.  Metabolic etiologies in West syndrome.

Authors:  Seda Salar; Solomon L Moshé; Aristea S Galanopoulou
Journal:  Epilepsia Open       Date:  2018-03-14

4.  Severe Developmental Delay, Epilepsy and Neonatal Diabetes (DEND) Syndrome: A Case Report.

Authors:  Muhd Alwi Muhd Helmi; Suhaimi Hussain
Journal:  J ASEAN Fed Endocr Soc       Date:  2020-04-25
  4 in total

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