title: 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.affiliation: Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
authors.forename: Kaate R J
authors.initials: KR
authors.lastname: Vanmolkot
authors.forename: Anine H
authors.initials: AH
authors.lastname: Stam
authors.forename: Ashok
authors.initials: A
authors.lastname: Raman
authors.forename: Jan B
authors.initials: JB
authors.lastname: Koenderink
authors.forename: Boukje
authors.initials: B
authors.lastname: de Vries
authors.forename: Eelke H
authors.initials: EH
authors.lastname: van den Boogerd
authors.forename: Judith
authors.initials: J
authors.lastname: van Vark
authors.forename: Jeroen J M W
authors.initials: JJ
authors.lastname: van den Heuvel
authors.forename: Nin
authors.initials: N
authors.lastname: Bajaj
authors.forename: Gisela M
authors.initials: GM
authors.lastname: Terwindt
authors.forename: Joost
authors.initials: J
authors.lastname: Haan
authors.forename: Rune R
authors.initials: RR
authors.lastname: Frants
authors.forename: Michel D
authors.initials: MD
authors.lastname: Ferrari
authors.forename: Arn M J M
authors.initials: AM
authors.lastname: van den Maagdenberg
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D002648:Child; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D020325:Migraine with Aura / Q000235:genetics*; D008969:Molecular Sequence Data; D010375:Pedigree; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics*
chemical_list: C498531:ATP1A2 protein, human; D000254:Sodium-Potassium-Exchanging ATPase