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Ned Tijdschr Geneeskd · Sep 2004
Review[From gene to disease; familial hemiplegic migraine as a result of mutations in a sodium-potassium pump gene].
- E E Kors, K R J Vanmolkot, J Haan, A M J M van den Maagdenberg, R R Frants, and M D Ferrari.
- Afd. Neurologie, Leids Universitair Medisch Centrum, Postbus 9600, 2300 RC Leiden.
- Ned Tijdschr Geneeskd. 2004 Sep 25; 148 (39): 1919-20.
AbstractFamilial 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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