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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…
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Keywords:
dend syndrome;
mutant;
syndrome;
ikatp ... See more keywords