rs1554901822
|
|
GA |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs80356618
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene.
|
19169493 |
2008 |
rs80356637
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes DEND syndrome.
|
17584766 |
2007 |
rs80356618
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The severe DEND syndrome was seen with the novel C166F mutation and mild developmental delay with the V59M mutation.
|
16670688 |
2006 |
rs80356637
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We identified a novel heterozygous mutation, F132L, in the ABCC8 gene of a patient with severe developmental delay, epilepsy and neonatal diabetes (DEND syndrome).
|
16613899 |
2006 |
rs529884745
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Interestingly, V64M caused DEND (developmental delay, epilepsy, neonatal diabetes) syndrome in our patient, while mutation of the same residue (V64G) had been reported to cause congenital hyperinsulinism.
|
27681997 |
2017 |
rs80356611
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Successful transition to sulfonylurea in neonatal diabetes, developmental delay, and seizures (DEND syndrome) due to R50P KCNJ11 mutation.
|
25678012 |
2015 |
rs193929337
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Some mutations in this gene, including p.Q52R, are associated with the developmental delay, epilepsy, neonatal diabetes (DEND) syndrome.
|
24150202 |
2014 |
rs80356616
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The patient with the V59M mutation successfully switched from insulin injections to oral glibenclamide; 2 years of follow-up revealed that the patient had intermediate developmental delay, epilepsy and neonatal diabetes (DEND) syndrome.
|
22145471 |
2011 |
rs80356620
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a novel Kir6.2 mutation (I167L) causing DEND syndrome.
|
17652641 |
2007 |