1-12 of 12 Search Results for

dend-developmental-delay-epilepsy-and-neonatal-diabetes

Follow your search
Access your saved searches in your account

Would you like to receive an alert when new items match your search?
Close Modal
Sort by
Journal Articles
Journal: Diabetes
Diabetes 2007;56(6):1737–1741
Published: 01 June 2007
... to key functional domains of SUR1. Whereas Kir6.2 mutations are a common cause of permanent neonatal diabetes and in a few cases associate with the DEND (developmental delay, epilepsy, and neonatal diabetes) syndrome, SUR1 mutations are more frequent in transient (52%) compared with permanent (14...
Includes: Supplementary data
Journal Articles
Journal: Diabetes
Diabetes 2007;56(2):328–336
Published: 01 February 2007
... mutations underlie developmental delay, epilepsy, and neonatal diabetes (DEND), which likely reflect KATP channel overactivity in brain, skeletal muscle, and nerve, while at the other end mildly activating mutations underlie transient NDM with no neurological features. In heterozygous expression...
Journal Articles
Journal: Diabetes
Diabetes 2005;54(9):2503–2513
Published: 01 September 2005
... alone, and a novel syndrome characterized by developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome. All mutations appear to cause neonatal diabetes by reducing KATP channel ATP sensitivity and increasing the KATP current, which inhibits β-cell electrical activity...
Journal Articles
Journal: Diabetes
Diabetes 2007;56(5):1357–1362
Published: 01 May 2007
... of L225P are similar to those of the PNDM-associated I1424V mutation ( 12 ) but not as severe as those of the DEND (Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome)-associated F132L mutation ( 11 ). Although the number of NDM-associated SUR1 mutations is still relatively small, thus far...
Journal Articles
Journal: Diabetes
Diabetes 2006;55(6):1738–1746
Published: 01 June 2006
... 2006 5 12 2005 DIABETES 2006 CHOP, CIEBP homolog protein DEND, developmental delay, epilepsy, and neonatal diabetes KATP channel, ATP-sensitive K+ channel PNDM, permanent neonatal diabetes mellitus SUR1, sulfonylurea receptor one UPR, unfolded protein...
Includes: Supplementary data
Journal Articles
Journal: Diabetes
Diabetes 2007;56(7):1930–1937
Published: 01 July 2007
... were a result of the severe hyperglycemia rather than as part of the DEND (Developmental Delay, Epilepsy, and Neonatal Diabetes) syndrome ( 17 ). Neurological features have not been reported in any of the five other patients with the R1183W mutation. The clinical characteristics of the probands...
Journal Articles
Journal: Diabetes
Diabetes 2006;55(6):1705–1712
Published: 01 June 2006
... – 11 ). Some of these mutations also give rise to muscle weakness and developmental delay (intermediate DEND syndrome) or to a severe condition in which neonatal diabetes is associated with developmental delay, muscle weakness, and epilepsy (DEND syndrome) ( 2 ). Kir6.2 serves as the pore-forming...
Journal Articles
Journal: Diabetes
Diabetes 2006;55(6):1731–1737
Published: 01 June 2006
... is comparable with that observed for other mutations causing neonatal diabetes alone (<15%) and significantly less that than observed for mutations associated with DEND syndrome (>35%) ( 19 ). The F35V and F35L mutations are associated with an increase in the PO(0) of homF35V...
Includes: Supplementary data
Journal Articles
Journal: Diabetes
Diabetes 2011;60(6):1813–1822
Published: 21 May 2011
... ). The diabetes may be permanent or follow a remitting–relapsing course ( 7 ). Fewer than 3% of patients experience DEND (developmental delay with epilepsy, muscle weakness and neonatal diabetes) syndrome; however, ≥20% manifest iDEND syndrome, an intermediate condition consisting of developmental delay, muscle...
Includes: Supplementary data
Journal Articles
Journal: Diabetes
Diabetes 2006;55(11):2957–2964
Published: 01 November 2006
... within the first few weeks of life and has typically required life-long insulin injections to treat ( 10 ). In the most severe cases, NDM is part of a neurological syndrome that includes developmental delay, epilepsy, and neonatal diabetes ( 3 , 11 ). All Kir6.2 mutations that have been functionally...
Journal Articles
Journal: Diabetes
Diabetes 2013;62(11):3909–3919
Published: 18 October 2013
...   JC , Tumini   S , et al . An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes . Diabetes   2007 ; 56 : 328 – 336 17259376 29. Koster   JC , Cadario   F , Peruzzi   C , Colombo...
Meeting Abstracts
Journal: Diabetes
Diabetes 2014;63(Supplement_1):A595–A631
Published: 01 June 2014
... function associated with increase in glucose made at day 1 of birth for patient 1 (PT1) and at day 43 for PT2. The patients dependent insulin secretion in the maintenance period. exhibited different phenotypes: PT1 had features of complete DEND syndrome (development delay, epilepsy and diabetes), while PT2...