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Developmental Delay, Epilepsy, and Neonatal Diabetes

Known as: DEND 
National Institutes of Health

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4 relations

Broader (4)

Diabetes MellitusEpilepsyNeonatal disorderPsychomotor Disorders

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Molecular and clinical features of KATP‐channel neonatal diabetes mellitus in Japan
There are few reports pertaining to Asian patients with neonatal diabetes mellitus (NDM) caused by activating mutations in the… 
2014
2014
A mutation causing increased KATP channel activity leads to reduced anxiety in mice
Review
2013
Review
2013
Metabolic Causes of Epileptic Encephalopathy
Epileptic encephalopathy can be induced by inborn metabolic defects that may be rare individually but in aggregate represent a… 
Highly Cited
2012
Highly Cited
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… 
2012
2012
Ultrasensitive electrogenerated chemiluminescence biosensor for the determination of mercury ion incorporating G4 PAMAM dendrimer and Hg(II)-specific oligonucleotide.
Highly Cited
2007
Highly Cited
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 (KATP channel) cause permanent neonatal diabetes mellitus (PNDM) in humans… 
Highly Cited
2007
Highly Cited
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… 
Highly Cited
2007
Highly Cited
2007
Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes DEND syndrome.
Activating mutations in the genes encoding the ATP-sensitive potassium (K(ATP)) channel subunits Kir6.2 and SUR1 are a common… 
Highly Cited
2003
Highly Cited
2003
Supramolecular H-bonded assemblies of redox-active metallodendrimers and positive and unusual dendritic effects on the recognition of H2PO4-.
The DSM polyamine dendrimers dend-DAB-(NH2)x of generations 1 (x = 4) to 4 (x = 32) form H-bonded dendritic assemblies with the… 
Highly Cited
2000
Highly Cited
2000
Double blind study of tiapride versus haloperidol and placebo in agitation and aggressiveness in elderly patients with cognitive impairment
Abstract Objective: The aim of the present study was to compare the efficacy and safety of tiapride versus haloperidol and… 
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