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

Abstract:

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 KCNJ11 mutations could have a neurological phenotype in addition to their diabetes. It is proposed that some patients with KCNJ11 mutations have neurological features that are part of a discrete neu...

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Publisher copy:
10.1038/sj.ejhg.5201629

Authors


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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
OCDEM
Role:
Author
Journal:
European journal of human genetics : EJHG More from this journal
Volume:
14
Issue:
7
Pages:
824-830
Publication date:
2006-07-01
DOI:
EISSN:
1476-5438
ISSN:
1018-4813
Language:
English
Keywords:
Pubs id:
pubs:22743
UUID:
uuid:05a4ecf0-a10d-4ea5-a322-d2523d1dcb02
Local pid:
pubs:22743
Source identifiers:
22743
Deposit date:
2012-12-19

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