DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We aimed to compare sulfonylurea therapy with insulin treatment in two sulfonylurea-sensitive individuals with a KCNJ11 mutation who had poorly controlled permanent neonatal diabetes mellitus.
|
29278452 |
2018 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The most common genetic cause of permanent neonatal diabetes mellitus is activating mutations in KCNJ11, which can usually be treated using oral sulfonylureas (SUs) instead of insulin injections, although some mutations are SU unresponsive.
|
27802092 |
2017 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel.
|
28842488 |
2017 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
Biomarker
|
disease |
BEFREE |
Thirteen (43%) individuals with KCNJ11 -related NDM had treatment for or a diagnosis of ADHD compared to two (8%) of the sibling controls (P < 0.05).
|
27555491 |
2017 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus.
|
27181099 |
2016 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Successful transition from insulin to sulphonyl urea (SU) agents in patients with PNDM due to KCNJ11 mutations and in patients with intermediate DEND syndrome due to KCNJ11 mutation have been reported in the literature.
|
27849623 |
2016 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time.
|
27908292 |
2016 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes mellitus.
|
24468099 |
2014 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genome sequencing identifies major causes of severe intellectual disability.
|
24896178 |
2014 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes mellitus.
|
24468099 |
2014 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe a patient with PNDM who had no neurological finding although she was determined to have a novel mutation (p.Q52L) in the same residue of the KCNJ11 as in the previously reported cases with DEND syndrome.
|
24150202 |
2014 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sulfonylureas (SUs) are effective at controlling glycemia in permanent neonatal diabetes mellitus (PNDM) caused by KCNJ11 (Kir6.2) mutations.
|
25231897 |
2014 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
We describe a patient with PNDM who had no neurological finding although she was determined to have a novel mutation (p.Q52L) in the same residue of the KCNJ11 as in the previously reported cases with DEND syndrome.
|
24150202 |
2014 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Unsuccessful switch from insulin to sulfonylurea therapy in permanent neonatal diabetes mellitus due to an R201H mutation in the KCNJ11 gene: a case report.
|
23434183 |
2013 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic defects have been identified in∼60% of cases, with mutations in ABCC8, KCNJ11 and INS being the most frequent causes of PNDM.
|
23562494 |
2013 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in KATP channel genes (KCNJ11, ABCC8) and the insulin gene (INS) are the most common causes of PNDM.
|
23050777 |
2013 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
|
23345197 |
2013 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.
|
23275527 |
2013 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have verified a lack of clinical response for both glycemic control and neurological features in an infant with permanent neonatal diabetes mellitus and DEND syndrome due to a V59A mutation in the KCNJ11 gene.
|
23382304 |
2013 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Role of Derlin-1 protein in proteostasis regulation of ATP-sensitive potassium channels.
|
22311976 |
2012 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Permanent neonatal diabetes mellitus (PNDM) in European population has an incidence of at least 1 in 260 000 live births and is most commonly due to mutations in KCNJ11 and ABCC8.
|
22060631 |
2012 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recessive EIF2AK3 gene mutations were the commonest cause of PNDM in the Arab cohort (22.7%) followed by INS (12.5%), and KCNJ11 and GCK (5.7% each), whereas K(ATP) channel mutations were the commonest cause (29.9%) in the British cohort.
|
22859427 |
2012 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function mutations of KCNJ11 can cause permanent neonatal diabetes mellitus, but only rarely after 6 months of age.
|
22694282 |
2012 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe a 12-year-old Portuguese girl with PNDM due to the previously reported R201C mutation in the KCNJ11 gene.
|
22768671 |
2012 |
DIABETES MELLITUS, PERMANENT NEONATAL
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis.
|
22498247 |
2012 |