KCNJ11 mutations cause sever neuropsychological deficits

2.50
Hdl Handle:
http://hdl.handle.net/11287/620104
Title:
KCNJ11 mutations cause sever neuropsychological deficits
Authors:
Day, Jacob O.; Torrens, L.; Bowman, Pamela; Shepherd, Maggie ( 0000-0003-2660-0955 ) ; Chakera, Ali J.; Hattersley, Andrew T.; Zeman, Adam
Abstract:
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
Publisher:
BMJ
Journal:
Journal of Neurology, Neurosurgery & Psychiatry
Issue Date:
2016
URI:
http://hdl.handle.net/11287/620104
Additional Links:
http://jnnp.bmj.com/content/87/12/e1.195.abstract
Type:
Conference abstract
Language:
en
Appears in Collections:
Neurology; Diabetes/Endocrine Services; Molecular Genetics; 2016 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorDay, Jacob O.en
dc.contributor.authorTorrens, L.en
dc.contributor.authorBowman, Pamelaen
dc.contributor.authorShepherd, Maggieen
dc.contributor.authorChakera, Ali J.en
dc.contributor.authorHattersley, Andrew T.en
dc.contributor.authorZeman, Adamen
dc.date.accessioned2016-11-22T10:43:26Z-
dc.date.available2016-11-22T10:43:26Z-
dc.date.issued2016-
dc.identifier.citationKCNJ11 mutations cause sever neuropsychological deficits. J Neurol Neurosurg Psychiatry 2016;87:e1en
dc.identifier.urihttp://hdl.handle.net/11287/620104-
dc.description.abstractKCNJ11 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.en
dc.language.isoenen
dc.publisherBMJen
dc.relation.urlhttp://jnnp.bmj.com/content/87/12/e1.195.abstracten
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titleKCNJ11 mutations cause sever neuropsychological deficitsen
dc.typeConference abstracten
dc.identifier.journalJournal of Neurology, Neurosurgery & Psychiatryen
dc.type.versionPublisheden
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