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Familial hemiplegic migraine (FHM) is a rare autosomal dominant form of migraine with aura in which some degree of hemiparesis is present during attacks. In FHM, the aura typically lasts longer than in migraine with aura and usually comprises visual, sensory, aphasic, and motor symptoms.1 Some patients with FHM develop permanent neurologic deficits, most often nystagmus and ataxia. MRI may show cerebellar atrophy.2,3
FHM is genetically heterogeneous; there are at least three loci. The first gene identified was CACNA1A on chromosome 19p13 that encodes the α1A-subunit of the P/Q-type voltage-gated calcium channel (VGCC).4 More recently, mutations in ATP1A2 on chromosome 1q23 that encodes the α2-subunit of the Na+/K+ pump have been identified in a few families.5 Linkage studies in a small number of families have excluded both of these loci, indicating further genetic heterogeneity.6
P/Q-type VGCCs, located presynaptically and on somatodendritic membranes, are well …
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