Switching to sulphonylureas in children with iDEND syndrome caused by KCNJ11 mutations results in improved cerebellar perfusion.

ABSTRACT:

Objective

Activating mutations in the KCNJ11 gene, encoding the Kir6.2 subunit of the KATP channel, result in permanent neonatal diabetes mellitus. They also may cause neurologic symptoms such as mental retardation and motor problems (iDEND syndrome) and epilepsy (DEND syndrome). Sulphonylurea (SU) treatment is reported to alleviate both the neurologic symptoms and diabetes in such cases. The study aimed to establish the magnitude and functional basis of the effect of SUs on the neurologic phenotype in children with iDEND using neuroimaging before and after insulin replacement with glibenclamide.

Research design and methods

To localize and quantify the effect of glibenclamide administration, we performed single-photon emission computed tomography in seven patients with diffe

SUBMITTER: Fendler W 

PROVIDER: S-EPMC3714477 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature