• Kaate R J Vanmolkot, Esther E Kors, Ulku Turk, Dylsad Turkdogan, Antoine Keyser, Ludo A M Broos, Kia Sima Kheradmand SK, 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, and Arn M J M van den Maagdenberg.
• Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands, and Department of Neurology, Dr Lütfi Kirdar State Hospital, Maltepe, Istanbul, Turkey.
• Eur. J. Hum. Genet. 2006 May 1; 14 (5): 555-60.

AbstractFamilial 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 alpha2-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.

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