A novel ATP1A2 gene mutation in an Irish familial hemiplegic migraine kindred

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dc.contributor.authorFernandez, Desiree M.
dc.contributor.authorHand, Collette K.
dc.contributor.authorSweeney, Brian J.
dc.contributor.authorParfrey, Nollaig A.
dc.date.accessioned2022-12-09T16:57:30Z
dc.date.available2022-12-09T16:57:30Z
dc.date.issued2008-01
dc.date.updated2022-12-09T14:14:48Z
dc.description.abstractObjective: We studied a large Irish Caucasian pedigree with familial hemiplegic migraine (FHM) with the aim of finding the causative gene mutation. Background: FHM is a rare autosomal-dominant subtype of migraine with aura, which is linked to 4 loci on chromosomes 19p13, 1q23, 2q24, and 1q31. The mutations responsible for hemiplegic migraine have been described in the CACNA1A gene (chromosome 19p13), ATP1A2 gene (chromosome 1q23), and SCN1A gene (chromosome 2q24). Methods: We performed linkage analyses in this family for chromosome 1q23 and performed mutation analysis of the ATP1A2 gene. Results: Linkage to the FHM2 locus on chromosome 1 was demonstrated. Mutation screening of the ATP1A2 gene revealed a G to C substitution in exon 22 resulting in a novel protein variant, D999H, which co-segregates with FHM within this pedigree and is absent in 50 unaffected individuals. This residue is also highly conserved across species. Conclusions: We propose that D999H is a novel FHM ATP1A2 mutation.en
dc.description.statusPeer revieweden
dc.description.versionAccepted Versionen
dc.format.mimetypeapplication/pdfen
dc.identifier.citationFernandez, D.M., Hand, C.K., Sweeney, B.J. and Parfrey, N.A. (2008) ‘A novel atp1a2 gene mutation in an Irish familial hemiplegic migraine kindred’, Headache: The Journal of Head and Face Pain, 48, pp. 101-108. https://doi.org/10.1111/j.1526-4610.2007.00848.x.en
dc.identifier.doi10.1111/j.1526-4610.2007.00848en
dc.identifier.endpage108en
dc.identifier.issn0017-8748
dc.identifier.journaltitleHeadache: The Journal of Head and Face Painen
dc.identifier.startpage101en
dc.identifier.urihttps://hdl.handle.net/10468/13919
dc.identifier.volume48en
dc.language.isoenen
dc.publisherWileyen
dc.relation.urihttps://doi.org/10.1111/j.1526-4610.2007.00848.x
dc.rights© 2007 the authors; © 2008 American Headache Society. This is the peer reviewed version of the following article: Fernandez et al (2008), A Novel ATP1A2 Gene Mutation in an Irish Familial Hemiplegic Migraine Kindred, Headache: The Journal of Head and Face Pain, 48: 101-108, which has been published in final form at https://doi.org/10.1111/j.1526-4610.2007.00848.x. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions.en
dc.subjectSpreading depressionen
dc.subjectSusceptibility locusen
dc.subjectChromosome 19P13en
dc.subjectTypical migraineen
dc.subjectCalcium channelen
dc.subjectCommon formsen
dc.subjectAuraen
dc.subjectType-2en
dc.subjectATP1A2 gene mutationen
dc.subjectFamilial hemiplegic migraineen
dc.subjectIrelanden
dc.titleA novel ATP1A2 gene mutation in an Irish familial hemiplegic migraine kindreden
dc.typeArticle (peer-reviewed)en
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