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Journal article

Functional characterisation of missense variations in the Kir4.1 potassium channel (KCNJ10) associated with seizure susceptibility.

Abstract:

Recent genetic linkage studies have identified an association between missense variations in the gene encoding the Kir4.1 potassium channel (KCNJ10) and seizure susceptibility phenotypes in both humans and mice. The results of this study demonstrate that these variations (T262S and R271C) do not produce any observable changes in channel function or in predicted channel structure. It is therefore unlikely that the seizure susceptibility phenotypes associated with these missense variations are ...

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Publication status:
Published

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Institution:
University of Oxford
Department:
Oxford, MPLS, Physics
Role:
Author
More by this author
Institution:
University of Oxford
Department:
Oxford, MPLS, Physics, Condensed Matter Physics
Role:
Author
Journal:
Brain research. Molecular brain research
Volume:
139
Issue:
1
Pages:
178-183
Publication date:
2005-09-05
DOI:
ISSN:
0169-328X
URN:
uuid:0063bc3e-3c5f-47cb-8d2e-468f73b0f225
Source identifiers:
15606
Local pid:
pubs:15606

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