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  • Title: [From gene to disease; familial hemiplegic migraine as a result of mutations in a sodium-potassium pump gene].
    Author: Kors EE, Vanmolkot KR, Haan J, van den Maagdenberg AM, Frants RR, Ferrari MD.
    Journal: Ned Tijdschr Geneeskd; 2004 Sep 25; 148(39):1919-20. PubMed ID: 15495990.
    Abstract:
    Familial hemiplegic migraine (FHM) is a rare, autosomal dominant subtype of migraine, associated in half of the families with mutations in the CACNA1A gene located on chromosome 19p13, which encodes the Cav2.1-subunit of brain-specific P/Q-type calcium channels. Recently, mutations in a second gene, ATP1A2 on chromosome 1q23, which encodes a sodium-potassium exchange pump subunit, have been identified. The first functional studies indicate that A TP1A2 FHM mutations result in a loss of function of the pump, leading to an increase in extracellular potassium. This is known to evoke cortical spreading depression, the underlying mechanism of migraine aura.
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