A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome.

Journal article

Inwardly rectifying potassium (Kir) channels control cell membrane K+ fluxes and electrical signalling in diverse cell types. Heterozygous mutations in the human Kir6.2 gene (KCNJ11), the pore-forming subunit of the ATP-sensitive (K(ATP)) channel, cause permanent neonatal diabetes mellitus. However, the I296L mutation also results in developmental delay, muscle weakness and epilepsy. We investigated the functional effects of the I296L mutation by expressing wild-type or mutant Kir6.2/SUR1 cha...

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Authors: Proks, P; Girard, C; Haider, S; Gloyn, A; Hattersley, A

• Publication status: Published
• Journal: EMBO reports
• Volume: 6
• Issue: 5
• Pages: 470-475
• Publication date: 2005-05-01
• DOI: 10.1038/sj.embor.7400393
• EISSN: 1469-3178
• ISSN: 1469-221X
• Language: English
• Keywords: Muscle Weakness; Models, Molecular; Animals; Adenosine Triphosphate; Female; Potassium Channels, Inwardly Rectifying; Syndrome; Ion Channel Gating; Oocytes; Developmental Disabilities; Diabetes Mellitus; Infant, Newborn; Patch-Clamp Techniques; Mutation; Allosteric Regulation; Humans; Epilepsy; Xenopus laevis