Referenced in: none

Automatically associated channels: Cav2.1

Title: [From gene to disease; familial hemiplegic migraine as a result of mutations in a sodium-potassium pump gene]

Authors: E E Kors, K R J Vanmolkot, J Haan, A M J M van den Maagdenberg, R R Frants, M D Ferrari

Journal, date & volume: , 2004 Sep 25 , 148, 1919-20

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/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.