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dc.contributor.authorStuart, Shanien_US
dc.contributor.authorRoy, Bishakhaen_US
dc.contributor.authorDavis, Gailen_US
dc.contributor.authorMaksemous, Nevenen_US
dc.contributor.authorSmith, Roberten_US
dc.contributor.authorGriffiths, Lynen_US
dc.date.accessioned2017-05-03T11:39:36Z
dc.date.available2017-05-03T11:39:36Z
dc.date.issued2012en_US
dc.date.modified2013-06-26T03:25:11Z
dc.identifier.issn18324274en_US
dc.identifier.doi10.1375/twin.15.1.120en_US
dc.identifier.urihttp://hdl.handle.net/10072/47777
dc.description.abstractFamilial hemiplegic migraine (FHM) is a rare autosomal dominant subtype of migraine with aura. It is divided into three subtypes FHM1, FHM2 and FHM3, which are caused by mutations in the CACNA1A, ATP1A2 and SCN1A genes respectively. As part of a regular diagnostic service, we investigated 168 patients with FHM symptoms. Samples were tested for mutations contained within the CACNA1A gene. Some tested samples (4.43%) showed an FHM1 mutation, with five of the mutations found in exon 5, one mutation in exon 16 and one in exon 17. Four polymorphisms were also detected, one of which occurred in a large percentage of samples (14.88%). The exon 16 2094G>A polymorphism, however, has been found to occur in healthy Caucasian control populations up to a frequency of 16% and is not considered to be significantly associated with FHM. A finding of significance, found in a single patient, was the detection of a novel mutation in exon 5 that results in a P225H change. The affected individual was an 8-year-old female. The exact phenotypic effect of this mutation is unknown, and further studies are needed to understand the pathophysiology of this mutation in FHM1. New information will allow for diagnostic procedures to be constantly updated, thus improving accuracy of diagnosis. It is possible that new information will also aid the development of new therapeutic agents for the treatment of FHM.en_US
dc.description.peerreviewedYesen_US
dc.description.publicationstatusYesen_US
dc.format.extent106034 bytes
dc.format.mimetypeapplication/pdf
dc.languageEnglishen_US
dc.language.isoen_US
dc.publisherAustralian Academic Pressen_US
dc.publisher.placeUnited Kingdomen_US
dc.relation.ispartofstudentpublicationNen_US
dc.relation.ispartofpagefrom120en_US
dc.relation.ispartofpageto125en_US
dc.relation.ispartofissue1en_US
dc.relation.ispartofjournalTwin Research and Human Geneticsen_US
dc.relation.ispartofvolume15en_US
dc.rights.retentionYen_US
dc.subject.fieldofresearchMedical and Health Sciences not elsewhere classifieden_US
dc.subject.fieldofresearchcode119999en_US
dc.titleDetection of a Novel Mutation in the CACNA1A geneen_US
dc.typeJournal articleen_US
dc.type.descriptionC1 - Peer Reviewed (HERDC)en_US
dc.type.codeC - Journal Articlesen_US
gro.facultyGriffith Health, School of Medical Scienceen_US
gro.rights.copyrightCopyright 2012 Cambridge University Press. The attached file is reproduced here in accordance with the copyright policy of the publisher. Please refer to the journal's website for access to the definitive, published version.en_US
gro.date.issued2012
gro.hasfulltextFull Text


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