European journal of human genetics : EJHG
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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.
Familial 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. ⋯ 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.