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dc.contributor.authorAndres-Enguix, Isabelleen_US
dc.contributor.authorShang, Lijunen_US
dc.contributor.authorJ. Stansfeld, Phillipen_US
dc.contributor.authorM. Morahan, Juliaen_US
dc.contributor.author.S.P. Sansom, Marken_US
dc.contributor.authorG. Lafreniere, Ronalden_US
dc.contributor.authorRoy, Bishakhaen_US
dc.contributor.authorGriffiths, Lynen_US
dc.contributor.authorA. Rouleau, Guyen_US
dc.contributor.authorC. Ebers, Georgeen_US
dc.contributor.authorM. Cader, Zameelen_US
dc.contributor.authorJ. Tucker, Stephenen_US
dc.date.accessioned2017-04-24T08:34:15Z
dc.date.available2017-04-24T08:34:15Z
dc.date.issued2012en_US
dc.date.modified2013-11-19T03:55:58Z
dc.identifier.issn20452322en_US
dc.identifier.doi10.1038/srep00237en_US
dc.identifier.urihttp://hdl.handle.net/10072/47733
dc.description.abstractA 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 and control cohorts, and no variation in KCNK18 copy number was found. Thus despite the previously identified association between loss of TRESK channel activity and migraine in a large multigenerational pedigree, this finding indicates that a single non-functional TRESK variant is not alone sufficient to cause typical migraine and highlights the genetic complexity of this disorder.en_US
dc.description.peerreviewedYesen_US
dc.description.publicationstatusYesen_US
dc.languageEnglishen_US
dc.language.isoen_US
dc.publisherNature Publishing Groupen_US
dc.publisher.placeUnited Kingdomen_US
dc.relation.ispartofstudentpublicationNen_US
dc.relation.ispartofpagefrom237-1en_US
dc.relation.ispartofpageto237-7en_US
dc.relation.ispartofjournalScientific Reportsen_US
dc.relation.ispartofvolume2en_US
dc.rights.retentionYen_US
dc.subject.fieldofresearchMedical and Health Sciences not elsewhere classifieden_US
dc.subject.fieldofresearchcode119999en_US
dc.titleFunctional analysis of missense variants in the TRESK (KCNK18) K+ channelen_US
dc.typeJournal articleen_US
dc.type.descriptionC1 - Peer Reviewed (HERDC)en_US
dc.type.codeC - Journal Articlesen_US
gro.date.issued2012
gro.hasfulltextNo Full Text


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