KCNJ11 mutations cause sever neuropsychological deficits

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Authors
Day, Jacob O.
Torrens, L.
Bowman, Pamela
Shepherd, Maggie
Chakera, Ali J.
Hattersley, Andrew T.
Zeman, Adam
Journal
Journal of Neurology, Neurosurgery & Psychiatry
Type
Conference abstract
Publisher
BMJ
DOI
Rights
KCNJ11 encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium channel present in brain regions including the hypothalamus, neocortex and cerebellum. Its neurological function is uncertain. KCNJ11 activating mutations cause neonatal diabetes (ND) as it is also expressed in the pancreas. This provides a unique opportunity to study the role of the channel in the human brain. We evaluated the neuropsychological features in patients with ND due to KCNJ11 mutations.
Citation
KCNJ11 mutations cause sever neuropsychological deficits. J Neurol Neurosurg Psychiatry 2016;87:e1
Note