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Eur. J. Hum. Genet. · Aug 2007
Case ReportsFirst case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine.
- Kaate R J Vanmolkot, Anine H Stam, Ashok Raman, Jan B Koenderink, Boukje de Vries, Eelke H van den Boogerd, Judith van Vark, Jeroen J M W van den Heuvel, Nin Bajaj, Gisela M Terwindt, Joost Haan, Rune R Frants, Michel D Ferrari, and Arn M J M van den Maagdenberg.
- Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
- Eur. J. Hum. Genet. 2007 Aug 1;15(8):884-8.
AbstractFamilial hemiplegic migraine (FHM) is a rare autosomal-dominant subtype of migraine with aura, associated with hemiparesis during the aura. Here we describe a unique FHM family in which two novel allelic missense mutations in the Na,K-ATPase gene ATP1A2 segregate in the proband with hemiplegic migraine. Both mutations show reduced penetrance in family members of the proband. Cellular survival assays revealed Na,K-ATPase dysfunction for both ATP1A2 mutants, indicating that both mutations are disease causative. This is the first case of compound heterozygosity for any of the known FHM genes.
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