FAQ

Developmental Delay, Epilepsy, and Neonatal Diabetes

Known as: DEND 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2005-2017
0246820052017

Related topics

Related topics

4 relations

Broader (4)

Diabetes MellitusEpilepsyNeonatal disorderPsychomotor Disorders

Related mentions per year

Related mentions per year

1936-2019
19401960198020002020
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
OBJECTIVE To assess performance on an age-standardized neuromotor coordination task among sulfonylurea-treated KCNJ11-related… (More)
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2011
2011
No beta cell desensitisation after a median of 68 months on glibenclamide therapy in patients with KCNJ11-associated permanent neonatal diabetes
To the Editor: Patients with permanent neonatalor infancy-onset diabetes mellitus associated with activating mutations of KCNJ11… (More)
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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
To the Editor: Permanent neonatal diabetes mellitus (PNDM) is mainly caused by activating mutations in the KCNJ11 or ABCC8 genes… (More)
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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…
Mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the ATP-sensitive potassium channel, often result in neonatal… (More)
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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.
CONTEXT Mutations in the Kir6.2 subunit (KCNJ11) of the ATP-sensitive potassium channel (KATP) underlie neonatal diabetes… (More)
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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.
Heterozygous activating mutations of KCNJ11 (Kir6.2) are the most common cause of permanent neonatal diabetes mellitus (PNDM) and… (More)
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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.
Mutations in the pancreatic ATP-sensitive K(+) channel (K(ATP) channel) cause permanent neonatal diabetes mellitus (PNDM) in… (More)
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2007
2007
New ABCC8 mutations in relapsing neonatal diabetes and clinical features.
Activating mutations in the ABCC8 gene that encodes the sulfonylurea receptor 1 (SUR1) regulatory subunit of the pancreatic islet… (More)
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2006
2006
KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features
Heterozygous activating mutations in the gene encoding for the ATP-sensitive potassium channel subunit Kir6.2 (KCNJ11) have… (More)
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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 6 months of life, with the phenotype determined by genotype
Heterozygous activating mutations in KCNJ11, which encodes the Kir6.2 subunit of the pancreatic ATP-sensitive potassium (KATP… (More)
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