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Neurogenetics. 2004 Jun;5(2):141-6. Epub 2004 May 7.

A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2.

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  • 1Biomedicum Helsinki, Research Program in Molecular Medicine, University of Helsinki, Helsinki, Finland. mari.kaunisto@hus.fi

Abstract

Familial hemiplegic migraine (FHM), a rare autosomal dominant subtype of migraine with aura, has been linked to two chromosomal loci, 19p13 and 1q23. Mutations in the Na+K+-ATPase alpha2 subunit gene, ATP1A2, on 1q23 have recently been shown to cause familial hemiplegic migraine type 2 (FHM2). We sequenced the coding regions of this gene in a Finnish chromosome 1q23-linked FHM family with associated symptoms such as coma and identified a novel A1033G mutation in exon 9. This mutation results in a threonine-to-alanine substitution at codon 345. This residue is located in a highly conserved N-terminal region of the M4-5 loop of the Na+,K+-ATPase. Furthermore, the T345A mutation co-segregated with the disorder in our family and was not present in 132 healthy Finnish control individuals. For these reasons it is most likely the FHM-causing mutation in this family.

PMID:
15133718
DOI:
10.1007/s10048-004-0178-z
[PubMed - indexed for MEDLINE]
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