<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="6.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Vanmolkot, Kaate R J</style></author><author><style face="normal" font="default" size="100%">Stam, Anine H</style></author><author><style face="normal" font="default" size="100%">Raman, Ashok</style></author><author><style face="normal" font="default" size="100%">Koenderink, Jan B</style></author><author><style face="normal" font="default" size="100%">de Vries, Boukje</style></author><author><style face="normal" font="default" size="100%">van den Boogerd, Eelke H</style></author><author><style face="normal" font="default" size="100%">van Vark, Judith</style></author><author><style face="normal" font="default" size="100%">van den Heuvel, Jeroen J M W</style></author><author><style face="normal" font="default" size="100%">Bajaj, Nin</style></author><author><style face="normal" font="default" size="100%">Terwindt, Gisela M</style></author><author><style face="normal" font="default" size="100%">Haan, Joost</style></author><author><style face="normal" font="default" size="100%">Frants, Rune R</style></author><author><style face="normal" font="default" size="100%">Ferrari, Michel D</style></author><author><style face="normal" font="default" size="100%">van den Maagdenberg, Arn M J M</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine.</style></title><secondary-title><style face="normal" font="default" size="100%">Eur J Hum Genet</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Eur. J. Hum. Genet.</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2007</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2007 Aug</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">15</style></volume><pages><style face="normal" font="default" size="100%">884-8</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">Familial hemiplegic migraine (FHM) is a rare autosomal-dominant subtype of migraine with aura, associated with hemiparesis during the aura. Here we describe a unique FHM family in which two novel allelic missense mutations in the Na,K-ATPase gene ATP1A2 segregate in the proband with hemiplegic migraine. Both mutations show reduced penetrance in family members of the proband. Cellular survival assays revealed Na,K-ATPase dysfunction for both ATP1A2 mutants, indicating that both mutations are disease causative. This is the first case of compound heterozygosity for any of the known FHM genes.</style></abstract><issue><style face="normal" font="default" size="100%">8</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/17473835?dopt=Abstract</style></custom1></record></records></xml>