Article
Enhanced subcortical spreading depression in familial hemiplegic migraine type 1 mutant mice.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 13 Apr 2011
Eikermann-Haerter Katharina, Yuzawa Izumi, Qin Tao, Wang Yumei, Baek Kwangyeol, Kim Young Ro, Hoffmann Ulrike, Dilekoz Ergin, Waeber Christian, Ferrari Michel D, van den Maagdenberg Arn M J M, Moskowitz Michael A, Ayata Cenk
Abstract excerpt
Familial hemiplegic migraine type 1, a monogenic migraine variant with aura, is linked to gain-of-function mutations in the CACNA1A gene encoding Ca(V)2.1 channels. The S218L mutation causes severe channel dysfunction, and paroxysmal migraine attacks can be accompanied by seizures, coma, and hemiplegia; patients expressing the R192Q mutation exhibit hemiplegia only. Familial hemiplegic migraine knock-in mice...
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