Developmental Delay, Epilepsy, and Neonatal Diabetes
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
Here we report three patients with neonatal diabetes; two with isolated pancreas agenesis due to mutations in the pancreas-specific transcription factor 1A (PTF1A) enhancer and one with developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome, due to a KCNJ11 mutation.
|
28943513 |
2018 |
Developmental Delay, Epilepsy, and Neonatal Diabetes
|
0.570 |
GermlineCausalMutation
|
disease |
ORPHANET |
Permanent neonatal diabetes mellitus caused by a novel mutation in the KCNJ11 gene.
|
24150202 |
2014 |
Developmental Delay, Epilepsy, and Neonatal Diabetes
|
0.570 |
GermlineCausalMutation
|
disease |
ORPHANET |
Neonatal diabetes with intractable epilepsy: DEND syndrome.
|
24912436 |
2014 |
Developmental Delay, Epilepsy, and Neonatal Diabetes
|
0.570 |
GermlineCausalMutation
|
disease |
ORPHANET |
DEND syndrome due to V59A mutation in KCNJ11 gene: unresponsive to sulfonylureas.
|
23382304 |
2013 |
Developmental Delay, Epilepsy, and Neonatal Diabetes
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
Gain of channel function (GOF) mutations in the genes encoding Kir6.2 (KCNJ11) or the associated regulatory ssulfonylurea receptor 1 subunit (ABCC8), cause developmental delay, epilepsy and neonatal diabetes (DEND) due to suppressed cell excitability in pancreatic β-cells and neurons.
|
23667671 |
2013 |
Developmental Delay, Epilepsy, and Neonatal Diabetes
|
0.570 |
GermlineCausalMutation
|
disease |
ORPHANET |
The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis.
|
22498247 |
2012 |
Developmental Delay, Epilepsy, and Neonatal Diabetes
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
This is the first patient who is reported to have iDEND syndrome due to KCNJ11 V59M mutation in China.
|
22145471 |
2011 |
Developmental Delay, Epilepsy, and Neonatal Diabetes
|
0.570 |
GermlineCausalMutation
|
disease |
ORPHANET |
This is the first patient who is reported to have iDEND syndrome due to KCNJ11 V59M mutation in China.
|
22145471 |
2011 |
Developmental Delay, Epilepsy, and Neonatal Diabetes
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
The objective of the study was to determine the molecular basis of intermediate DEND in a 27-yr-old patient with a KCNJ11 mutation (G53D) and the patient's response to SU therapy.
|
18073297 |
2008 |
Developmental Delay, Epilepsy, and Neonatal Diabetes
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.
|
17259376 |
2007 |
Developmental Delay, Epilepsy, and Neonatal Diabetes
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
In a few patients, KCNJ11 mutations cause a triad of developmental delay, epilepsy, and neonatal diabetes (DEND syndrome).
|
17652641 |
2007 |
Developmental Delay, Epilepsy, and Neonatal Diabetes
|
0.570 |
GermlineCausalMutation
|
disease |
ORPHANET |
In a few patients, KCNJ11 mutations cause a triad of developmental delay, epilepsy, and neonatal diabetes (DEND syndrome).
|
17652641 |
2007 |
Developmental Delay, Epilepsy, and Neonatal Diabetes
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
It is proposed that some patients with KCNJ11 mutations have neurological features that are part of a discrete neurological syndrome termed developmental Delay, Epilepsy and Neonatal Diabetes (DEND), but there are also neurological consequences of chronic or acute diabetes.
|
16670688 |
2006 |
Developmental Delay, Epilepsy, and Neonatal Diabetes
|
0.570 |
Biomarker
|
disease |
MGD |
|
|
|