title: Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families.
abstract: Familial hemiplegic migraine (FHM) is a rare autosomal dominant form of migraine with aura. This disease has been associated with missense mutations in the CACNA1A and ATP1A2 genes. The aim of this study was to identify whether CACNA1A and ATP1A2 are or not related to Brazilian FHM. Here we screened four Brazilian FHM families (total of 26 individuals--13 affected and 13 asymptomatic or normal) for mutations in both genes. We found an amino acid change in a member of family FHM-D (Arg2206Gly). However since this alteration is not present in all affected individuals and is present in one asymptomatic individual it should be considered a polymorphism. Further studies with additional families will be necessary to reveal the importance of both CACNA1A and ATP1A2 genes on the pathogeneses of FHM in Brazil and to test the third gene (SCN1A) in these FHM families.
authors.affiliation: Instituto de Ensino e Pesquisa, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil, and Leiden University Medical Center, The Netherlands. lucianarl@einstein.br
authors.forename: Luciana R
authors.initials: LR
authors.lastname: Lopes
authors.forename: Mario Fernando Prieto
authors.initials: MF
authors.lastname: Peres
authors.forename: Kaate R J
authors.initials: KR
authors.lastname: Vanmolkot
authors.forename: Patrícia R
authors.initials: PR
authors.lastname: Tobo
authors.forename: Eliova
authors.initials: E
authors.lastname: Zukerman
authors.forename: Rune R
authors.initials: RR
authors.lastname: Frants
authors.forename: Arn M J M
authors.initials: AM
authors.lastname: van den Maagdenberg
authors.forename: Carlos Alberto
authors.initials: CA
authors.lastname: Moreira-Filho
mesh_terms: D000328:Adult; D001938:Brazil; D015220:Calcium Channels / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D020325:Migraine with Aura / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics*; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics*; D020864:Calcium Channels, N-Type
chemical_list: D015220:Calcium Channels; D005819:Genetic Markers; D000254:Sodium-Potassium-Exchanging ATPase; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type; C498531:ATP1A2 protein, human