Cognitive deficits and impaired hippocampal long-term potentiation in KATP-induced DEND syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2109721118
Abstract: Significance Gain-of-function (GOF) mutations in the ATP-sensitive potassium (KATP) channel cause neonatal diabetes, with some individuals exhibiting developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome. In this study, we uncover the direct effects of neuronal… read more here.
Keywords: gof mutations; katp; katp gof; cognitive deficits ... See more keywords
Development of IKATP Ion Channel Blockers Targeting Sulfonylurea Resistant Mutant KIR6.2 Based Channels for Treating DEND Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pharmacology"
DOI: 10.3389/fphar.2021.814066
Abstract: Introduction: DEND syndrome is a rare channelopathy characterized by a combination of developmental delay, epilepsy and severe neonatal diabetes. Gain of function mutations in the KCNJ11 gene, encoding the KIR6.2 subunit of the IKATP potassium… read more here.
Keywords: dend syndrome; mutant; syndrome; ikatp ... See more keywords