First case of compound heterozygosity in Na, K-ATPase gene ATP1A2 in familial hemiplegic migraine

被引：19

作者：

Vanmolkot, Kaate R. J.

Stam, Anine H.

Raman, Ashok

Koenderink, Jan B.

de Vries, Boukje

van den Boogerd, Eelke H.

van Vark, Judith

van den Heuvel, Jeroen J. M. W.

Bajaj, Nin

Terwindt, Gisela M.

Haan, Joost

Frants, Rune R.

Ferrari, Michel D.

van den Maagdenberg, Arn M. J. M.

机构：

[1] Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZC Leiden, Netherlands

[2] Leiden Univ, Med Ctr, Dept Neurol, Leiden, Netherlands

[3] Queens Med Ctr, Dept Neurol, Nottingham NG7 2UH, England

[4] Radboud Univ Nijmegen, Nijmegen Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Pharmacol & Toxicol, Nijmegen, Netherlands

[5] Rijnland Hosp, Dept Neurol, Leiderdorp, Netherlands

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2007年 / 15卷 / 08期

关键词：

familial hemiplegic migraine (FHM); ATP1A2; Na; K-ATPase;

D O I：

10.1038/sj.ejhg.5201841

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：884 / 888

页数：5

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