title: Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions.
abstract: Familial hemiplegic migraine (FHM) is a rare, severe, autosomal dominant subtype of migraine with aura. Up to 75% of FHM families have a mutation in the P/Q-type calcium channel Ca(v)2.1 subunit CACNA1A gene on chromosome 19p13. Some CACNA1A mutations also may cause epilepsy. Here, we describe novel missense mutations in the ATP1A2 Na(+),K(+)-ATPase pump gene on chromosome 1q23 in two families with FHM. The M731T mutation was found in a family with pure FHM. The R689Q mutation was identified in a family in which FHM and benign familial infantile convulsions partially cosegregate. In this family, all available affected family members with FHM, benign familial infantile convulsions, or both, carry the ATP1A2 mutation. Like FHM linked to 19p13, FHM linked to 1q23 also involves dysfunction of ion transportation and epilepsy is part of its phenotypic spectrum.
authors.affiliation: Department of Human Genetics, Leiden University Medical Centre, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands.
authors.forename: Kaate R J
authors.initials: KR
authors.lastname: Vanmolkot
authors.forename: Esther E
authors.initials: EE
authors.lastname: Kors
authors.forename: Jouke-Jan
authors.initials: JJ
authors.lastname: Hottenga
authors.forename: Gisela M
authors.initials: GM
authors.lastname: Terwindt
authors.forename: Joost
authors.initials: J
authors.lastname: Haan
authors.forename: Wil A J
authors.initials: WA
authors.lastname: Hoefnagels
authors.forename: David F
authors.initials: DF
authors.lastname: Black
authors.forename: Lodewijk A
authors.initials: LA
authors.lastname: Sandkuijl
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; D000368:Aged; D000595:Amino Acid Sequence; D000818:Animals; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D020936:Epilepsy, Benign Neonatal / Q000150:complications / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008297:Male; D051379:Mice; D008875:Middle Aged; D020325:Migraine with Aura / Q000150:complications / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree; D016133:Polymerase Chain Reaction; D051381:Rats; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics*; D013045:Species Specificity
chemical_list: D000254:Sodium-Potassium-Exchanging ATPase