Article
A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs.
Neurogenetics - 1 Sept 2004
Spadaro Maria, Ursu Simona, Lehmann-Horn Frank, Veneziano Liana, Liana Veneziano, Antonini Giovanni, Giovanni Antonini, Giunti Paola, Paola Giunti, Frontali Marina, Jurkat-Rott Karin
Abstract excerpt
Familial hemiplegic migraine (FHM) is an autosomal dominant subtype of migraine with hemiparesis during the aura. In over 50% of cases the causative gene is CACNA1A (FHM1), which in some cases produces a phenotype with cerebellar signs, including ataxia and nystagmus. Recently, mutations in ATP1A2 on chromosome 1q23 encoding a Na+/K+ -ATPase subunit were identified in four families (FHM2). We now describe an FHM2...
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