Na,K-ATPase mutations in familial hemiplegic migraine lead to functional inactivation

Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine.

Mutations in alpha1A, the pore-forming subunit of P/Q-type calcium channels, are linked to several human diseases, including familial hemiplegic migraine (FHM). We introduced the four missense mutations linked to FHM into human alpha1A-2 subunits and investigated their functional consequences after expression in human embryonic kidney 293 cells. By combining single-channel and whole-cell patch-...

Familial hemiplegic migraine.

[Familial hemiplegic migraine].

Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura. It is inherited as an autosomal dominant trait. A gene for FHM has been assigned to chromosome 19. This gene codes for a brain-specific calcium channel, and is responsible for FHM in 55% of the FHM families. Other FHM families have been linked to two different locations on chromosome 1. These locations contain possible ...

Inhibition of phosphorylation of na+,k+-ATPase by mutations causing familial hemiplegic migraine.

The neurological disorder familial hemiplegic migraine type II (FHM2) is caused by mutations in the α2-isoform of the Na(+),K(+)-ATPase. We have studied the partial reaction steps of the Na(+),K(+)-pump cycle in nine FHM2 mutants retaining overall activity at a level still compatible with cell growth. Although it is believed that the pathophysiology of FHM2 results from reduced extracellular K(...

Genetic heterogeneity of familial hemiplegic migraine.

Familial hemiplegic migraine (FHM) is a distinctive form of migraine with an autosomal dominant mode of inheritance. The migraine-like attacks are associated with transient hemiparesis. A locus for FHM has recently been assigned to chromosome 19 by linkage mapping. In the present study, five unrelated pedigrees with multiple members suffering from hemiplegic migraine were investigated. In two o...