title: ATP1A2 mutations in 11 families with familial hemiplegic migraine.
abstract: Familial hemiplegic migraine (FHM) is an autosomal dominant form of migraine with aura. The disease is caused by mutations of at least three genes among which two have been identified, CACNA1A and ATP1A2. Very few mutations have been identified so far in ATP1A2. We screened the coding sequence of ATP1A2 in 26 unrelated FHM probands in whom CACNA1A screening was negative. A total of eight different mutations were identified in 11 of the probands (41%), including six missense mutations, one small deletion leading to a frameshift, and one in frame deletion. All were novel mutations. Two mutations were recurrent, in three and two families, respectively. Genotyping of 94 relatives of these 11 probands identified 47 mutation carriers, among whom 36 were clinically affected. Sequencing of all 23 exons in an ethnically matched panel detected only one exonic coding polymorphism.
authors.affiliation: Laboratoire de Génétique Moléculaire, Hôpital Lariboisière AP-HP, Paris, France.
authors.forename: Florence
authors.initials: F
authors.lastname: Riant
authors.forename: Maurizio
authors.initials: M
authors.lastname: De Fusco
authors.forename: Paolo
authors.initials: P
authors.lastname: Aridon
authors.forename: Anne
authors.initials: A
authors.lastname: Ducros
authors.forename: Claire
authors.initials: C
authors.lastname: Ploton
authors.forename: Florence
authors.initials: F
authors.lastname: Marchelli
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Maciazek
authors.forename: Marie Germaine
authors.initials: MG
authors.lastname: Bousser
authors.forename: Giorgio
authors.initials: G
authors.lastname: Casari
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Tournier-Lasserve
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D005091:Exons; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D020325:Migraine with Aura / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D011110:Polymorphism, Genetic; D017386:Sequence Homology, Amino Acid; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics*
chemical_list: C498531:ATP1A2 protein, human; D000254:Sodium-Potassium-Exchanging ATPase