Journal article
Functional analysis of missense variants in the TRESK (KCNK18) K channel
- Abstract:
-
A loss of function mutation in the TRESK K2P potassium channel (KCNK18), has recently been linked with typical familial migraine with aura. We now report the functional characterisation of additional TRESK channel missense variants identified in unrelated patients. Several variants either had no apparent functional effect, or they caused a reduction in channel activity. However, the C110R variant was found to cause a complete loss of TRESK function, yet is present in both sporadic migraine an...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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Authors
Bibliographic Details
- Publisher:
- Springer Nature Publisher's website
- Journal:
- Scientific Reports Journal website
- Volume:
- 2
- Article number:
- 237
- Publication date:
- 2012-01-27
- Acceptance date:
- 2011-12-23
- DOI:
- EISSN:
-
2045-2322
Item Description
- Language:
- English
- Keywords:
- UUID:
-
uuid:3eaf799d-e96b-4841-ab75-0c0a00466553
- Local pid:
- pubs:312823
- Source identifiers:
-
312823
- Deposit date:
- 2012-12-19
Terms of use
- Copyright holder:
- Andres-Enguix, I et al
- Copyright date:
- 2012
- Notes:
- © 2012 Andres-Enguix, I et al. This work is licensed under a Creative Commons Attribution-NonCommercial-ShareALike 3.0 Unported License.
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