KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.

Heterozygous activating mutations in the gene encoding for the ATP-sensitive potassium channel subunit Kir6.2 (KCNJ11) have recently been shown to be a common cause of permanent neonatal diabetes. Kir6.2 is expressed in muscle, neuron and brain as well as the pancreatic beta-cell, so patients with K...

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Bibliographic Details
Main Authors: Gloyn, A, Diatloff-Zito, C, Edghill, E, Bellanné-Chantelot, C, Nivot, S, Coutant, R, Ellard, S, Hattersley, A, Robert, J
Format: Journal article
Language:English
Published: 2006