Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine

Kaate R J Vanmolkot, Esther E. Kors, Ulku Turk, Dylsad Turkdogan, Antoine Keyser, Ludo A M Broos, Sima Kheradmand Kia, Jeroen J M W van den Heuvel, David F. Black, Joost Haan, Rune R. Frants, Virginia Barone, Michel D. Ferrari, Giorgio Casari, Jan B. Koenderink, Arn M J M van den Maagdenberg

Research output: Contribution to journalArticle

Abstract

Familial hemiplegic migraine (FHM) is a rare autosomal dominantly inherited subtype of migraine, in which hemiparesis occurs during the aura. The majority of the families carry mutations in the CACNA1A gene on chromosome 19p13 (FHM1). About 20% of FHM families is linked to chromosome 1q23 (FHM2), and has mutations in the ATP1A2 gene, encoding the α2-subunit of the Na,K-ATPase. Mutation analysis in a Dutch and a Turkish family with pure FHM revealed two novel de novo missense mutations, R593W and V628M, respectively. Cellular survival assays support the hypothesis that both mutations are disease-causative. The identification of the first de novo mutations underscores beyond any doubt the involvement of the ATP1A2 gene in FHM2.

Original languageEnglish
Pages (from-to)555-560
Number of pages6
JournalEuropean Journal of Human Genetics
Volume14
Issue number5
DOIs
Publication statusPublished - May 2006

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Keywords

  • ATP1A2
  • Familial hemiplegic migraine (FHM)
  • K-ATPase
  • Na

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Vanmolkot, K. R. J., Kors, E. E., Turk, U., Turkdogan, D., Keyser, A., Broos, L. A. M., Kia, S. K., van den Heuvel, J. J. M. W., Black, D. F., Haan, J., Frants, R. R., Barone, V., Ferrari, M. D., Casari, G., Koenderink, J. B., & van den Maagdenberg, A. M. J. M. (2006). Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine. European Journal of Human Genetics, 14(5), 555-560. https://doi.org/10.1038/sj.ejhg.5201607