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

Kaate R J Vanmolkot; Anine H Stam; Ashok Raman; Jan B Koenderink; Boukje de Vries; Eelke H van den Boogerd; Judith van Vark; Jeroen J M W van den Heuvel; Nin Bajaj; Gisela M Terwindt; Joost Haan; Rune R Frants; Michel D Ferrari; Arn M J M van den Maagdenberg

doi:10.1038/sj.ejhg.5201841

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

Eur J Hum Genet. 2007 Aug;15(8):884-8. doi: 10.1038/sj.ejhg.5201841. Epub 2007 May 2.

Authors

Kaate R J Vanmolkot¹, Anine H Stam, Ashok Raman, Jan B Koenderink, Boukje de Vries, Eelke H van den Boogerd, Judith van Vark, Jeroen J M W van den Heuvel, Nin Bajaj, Gisela M Terwindt, Joost Haan, Rune R Frants, Michel D Ferrari, Arn M J M van den Maagdenberg

Affiliation

¹ Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands.

PMID: 17473835
DOI: 10.1038/sj.ejhg.5201841

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Amino Acid Sequence
Child
Female
Heterozygote*
Humans
Male
Migraine with Aura / genetics*
Molecular Sequence Data
Pedigree
Sodium-Potassium-Exchanging ATPase / genetics*

Substances

ATP1A2 protein, human
Sodium-Potassium-Exchanging ATPase