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Developmental Delay, Epilepsy, and Neonatal Diabetes
Known as:
DEND
Â
Â
National Institutes of Health
Topic mentions per year
Topic mentions per year
2005-2017
0
2
4
6
8
2005
2017
Related topics
Related topics
4 relations
Broader (4)
Diabetes Mellitus
Epilepsy
Neonatal disorder
Psychomotor Disorders
Related mentions per year
Related mentions per year
1936-2019
1940
1960
1980
2000
2020
Developmental Delay, Epilepsy, and Neonatal Diabetes
Diabetes Mellitus
Epilepsy
Neonatal disorder
Psychomotor Disorders
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2012
2012
Visuomotor Performance in KCNJ11-Related Neonatal Diabetes Is Impaired in Children With DEND-Associated Mutations and May Be Improved by Early Treatment With Sulfonylureas
Reshma P. Shah
,
Karen Spruyt
,
Brigette C. Kragie
,
Siri Atma W Greeley
,
M E Msall
Diabetes care
2012
OBJECTIVE To assess performance on an age-standardized neuromotor coordination task among sulfonylurea-treated KCNJ11-related…Â
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2011
2011
No beta cell desensitisation after a median of 68Â months on glibenclamide therapy in patients with KCNJ11-associated permanent neonatal diabetes
Dario Iafusco
,
Claudia Bizzarri
,
+7 authors
Fabrizio Barbetti
Diabetologia
2011
To the Editor: Patients with permanent neonatalor infancy-onset diabetes mellitus associated with activating mutations of KCNJ11…Â
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2010
2010
Successful transfer to sulfonylurea therapy in an infant with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome and a novel ABCC8 gene mutation
Nitash Zwaveling-Soonawala
,
Eveline E. O. Hagebeuk
,
Annabelle S. Slingerland
,
Carrie Ris-Stalpers
,
Tom Vulsma
,
A S P Paul van Trotsenburg
Diabetologia
2010
To the Editor: Permanent neonatal diabetes mellitus (PNDM) is mainly caused by activating mutations in the KCNJ11 or ABCC8 genes…Â
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2010
2010
Medical and developmental impact of transition from subcutaneous insulin to oral glyburide in a 15-yr-old boy with neonatal diabetes mellitus and intermediate DEND syndrome: extending the age of…
Ali Reze Mohamadi
,
Loretta M. Clark
,
Paul H. Lipkin
,
E Mark Mahone
,
Ericka L. Wodka
,
Leslie P. Plotnick
Pediatric diabetes
2010
Mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the ATP-sensitive potassium channel, often result in neonatal…Â
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2008
2008
The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy.
Joseph C. Koster
,
Francesco Cadario
,
Cinzia Peruzzi
,
Carlo Colombo
,
Colin G. Nichols
,
Fabrizio Barbetti
The Journal of clinical endocrinology and…
2008
CONTEXT Mutations in the Kir6.2 subunit (KCNJ11) of the ATP-sensitive potassium channel (KATP) underlie neonatal diabetes…Â
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2008
2008
Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene.
ThaÃs Della Manna
,
Claudilene Battistim
,
+7 authors
André da Fonte Reis
Arquivos brasileiros de endocrinologia e…
2008
Heterozygous activating mutations of KCNJ11 (Kir6.2) are the most common cause of permanent neonatal diabetes mellitus (PNDM) and…Â
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2007
2007
An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.
Ricard Masia
,
Joseph C. Koster
,
+4 authors
Fabrizio Barbetti
Diabetes
2007
Mutations in the pancreatic ATP-sensitive K(+) channel (K(ATP) channel) cause permanent neonatal diabetes mellitus (PNDM) in…Â
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2007
2007
New ABCC8 mutations in relapsing neonatal diabetes and clinical features.
Martine Vaxillaire
,
Aurélie Dechaume
,
+7 authors
Michel Polak
Diabetes
2007
Activating mutations in the ABCC8 gene that encodes the sulfonylurea receptor 1 (SUR1) regulatory subunit of the pancreatic islet…Â
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2006
2006
KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features
Anna L Gloyn
,
Catherine Diatloff-Zito
,
+6 authors
Jean Jacques Robert
European Journal of Human Genetics
2006
Heterozygous activating mutations in the gene encoding for the ATP-sensitive potassium channel subunit Kir6.2 (KCNJ11) have…Â
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Highly Cited
2006
Highly Cited
2006
Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6Â months of life, with the phenotype determined by genotype
Sarah E Flanagan
,
Emma L. Edghill
,
Anna L Gloyn
,
Stéphane Ellard
,
Andrew T Hattersley
Diabetologia
2006
Heterozygous activating mutations in KCNJ11, which encodes the Kir6.2 subunit of the pancreatic ATP-sensitive potassium (KATP…Â
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