<?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%">Kaunisto, M A</style></author><author><style face="normal" font="default" size="100%">Harno, H</style></author><author><style face="normal" font="default" size="100%">Vanmolkot, K R J</style></author><author><style face="normal" font="default" size="100%">Gargus, J J</style></author><author><style face="normal" font="default" size="100%">Sun, G</style></author><author><style face="normal" font="default" size="100%">Hämäläinen, E</style></author><author><style face="normal" font="default" size="100%">Liukkonen, E</style></author><author><style face="normal" font="default" size="100%">Kallela, M</style></author><author><style face="normal" font="default" size="100%">van den Maagdenberg, A M J M</style></author><author><style face="normal" font="default" size="100%">Frants, R R</style></author><author><style face="normal" font="default" size="100%">Färkkilä, M</style></author><author><style face="normal" font="default" size="100%">Palotie, A</style></author><author><style face="normal" font="default" size="100%">Wessman, M</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2.</style></title><secondary-title><style face="normal" font="default" size="100%">Neurogenetics</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Neurogenetics</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2004</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2004 Jun</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">5</style></volume><pages><style face="normal" font="default" size="100%">141-6</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), a rare autosomal dominant subtype of migraine with aura, has been linked to two chromosomal loci, 19p13 and 1q23. Mutations in the Na+K+-ATPase alpha2 subunit gene, ATP1A2, on 1q23 have recently been shown to cause familial hemiplegic migraine type 2 (FHM2). We sequenced the coding regions of this gene in a Finnish chromosome 1q23-linked FHM family with associated symptoms such as coma and identified a novel A1033G mutation in exon 9. This mutation results in a threonine-to-alanine substitution at codon 345. This residue is located in a highly conserved N-terminal region of the M4-5 loop of the Na+,K+-ATPase. Furthermore, the T345A mutation co-segregated with the disorder in our family and was not present in 132 healthy Finnish control individuals. For these reasons it is most likely the FHM-causing mutation in this family.</style></abstract><issue><style face="normal" font="default" size="100%">2</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/15133718?dopt=Abstract</style></custom1></record></records></xml>