Functional characterisation of missense variations in the Kir4.1 potassium channel (KCNJ10) associated with seizure susceptibility.
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 pro...
| Main Authors: | , , , |
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| Format: | Journal article |
| Language: | English |
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2005
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| _version_ | 1797050276355506176 |
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| author | Shang, L Lucchese, C Haider, S Tucker, S |
| author_facet | Shang, L Lucchese, C Haider, S Tucker, S |
| author_sort | Shang, L |
| collection | OXFORD |
| description | 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 caused by changes in the intrinsic functional properties of Kir4.1. |
| first_indexed | 2024-03-06T18:02:47Z |
| format | Journal article |
| id | oxford-uuid:0063bc3e-3c5f-47cb-8d2e-468f73b0f225 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T18:02:47Z |
| publishDate | 2005 |
| record_format | dspace |
| spelling | oxford-uuid:0063bc3e-3c5f-47cb-8d2e-468f73b0f2252022-03-26T08:29:12ZFunctional characterisation of missense variations in the Kir4.1 potassium channel (KCNJ10) associated with seizure susceptibility.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:0063bc3e-3c5f-47cb-8d2e-468f73b0f225EnglishSymplectic Elements at Oxford2005Shang, LLucchese, CHaider, STucker, SRecent 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 caused by changes in the intrinsic functional properties of Kir4.1. |
| spellingShingle | Shang, L Lucchese, C Haider, S Tucker, S Functional characterisation of missense variations in the Kir4.1 potassium channel (KCNJ10) associated with seizure susceptibility. |
| title | Functional characterisation of missense variations in the Kir4.1 potassium channel (KCNJ10) associated with seizure susceptibility. |
| title_full | Functional characterisation of missense variations in the Kir4.1 potassium channel (KCNJ10) associated with seizure susceptibility. |
| title_fullStr | Functional characterisation of missense variations in the Kir4.1 potassium channel (KCNJ10) associated with seizure susceptibility. |
| title_full_unstemmed | Functional characterisation of missense variations in the Kir4.1 potassium channel (KCNJ10) associated with seizure susceptibility. |
| title_short | Functional characterisation of missense variations in the Kir4.1 potassium channel (KCNJ10) associated with seizure susceptibility. |
| title_sort | functional characterisation of missense variations in the kir4 1 potassium channel kcnj10 associated with seizure susceptibility |
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