Article
Diverse functional consequences of mutations in the Na+/K+-ATPase alpha2-subunit causing familial hemiplegic migraine type 2.
The Journal of biological chemistry - 7 Nov 2008
Tavraz Neslihan N, Friedrich Thomas, Dürr Katharina L, Koenderink Jan B, Bamberg Ernst, Freilinger Tobias, Dichgans Martin
Abstract excerpt
Mutations in ATP1A2, the gene coding for the Na(+)/K(+)-ATPase alpha(2)-subunit, are associated with both familial hemiplegic migraine and sporadic cases of hemiplegic migraine. In this study, we examined the functional properties of 11 ATP1A2 mutations associated with familial or sporadic hemiplegic migraine, including missense mutations (T263M, T376M, R383H, A606T, R763H, M829R, R834Q, R937P, and X1021R), a...
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