Article
ATP1A2 mutations in 11 families with familial hemiplegic migraine.
Human mutation - 1 Sept 2005
Riant Florence, De Fusco Maurizio, Aridon Paolo, Ducros Anne, Ploton Claire, Marchelli Florence, Maciazek Jacqueline, Bousser Marie Germaine, Casari Giorgio, Tournier-Lasserve Elisabeth
Abstract excerpt
Familial hemiplegic migraine (FHM) is an autosomal dominant form of migraine with aura. The disease is caused by mutations of at least three genes among which two have been identified, CACNA1A and ATP1A2. Very few mutations have been identified so far in ATP1A2. We screened the coding sequence of ATP1A2 in 26 unrelated FHM probands in whom CACNA1A screening was negative. A total of eight different mutations were...
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