Development of IKATP Ion Channel Blockers Targeting Sulfonylurea Resistant Mutant KIR6.2 Based Channels for Treating DEND Syndrome

• Main Authors: Marien J. C. Houtman (Author), Theres Friesacher (Author), Xingyu Chen (Author), Eva-Maria Z (Author), Marcel A. G. van der Heyden (Author), Anna Stary-Weinzinger (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 channel, stand at the basis of most forms of DEND syndro...