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

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.

• Authors: 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
• Journal: European journal of human genetics : EJHG (Eur J Hum Genet) Vol. 15 Issue 8 Pg. 884-8 (Aug 2007) ISSN: 1018-4813 [Print] England
• PMID: 17473835 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• ATP1A2 protein, human
• Sodium-Potassium-Exchanging ATPase

Topics

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