Article
Alterations in the alpha2 isoform of Na,K-ATPase associated with familial hemiplegic migraine type 2.
Proceedings of the National Academy of Sciences of the United States of America - 2 Aug 2005
Segall Laura, Mezzetti Alessandra, Scanzano Rosemarie, Gargus J Jay, Purisima Enrico, Blostein Rhoda
Abstract excerpt
A number of missense mutations in the Na,K-ATPase alpha2 catalytic subunit have been identified in familial hemiplegic migraine with aura. Two alleles (L764P and W887R) showed loss-of-function, whereas a third (T345A) is fully functional but with altered Na,K-ATPase kinetics. This study describes two additional mutants, R689Q and M731T, originally identified by Vanmolkot et al. [Vanmolkot, K. R., et al. (2003)...
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