Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients.
The aim of this study was to investigate the involvement of the CACNA1A and ATP1A2 gene in a population-based sample of sporadic hemiplegic migraine (SHM). Patients with SHM (n = 105) were identified in a nationwide search in the Danish population. We sequenced all exons and promoter regions of the CACNA1A and ATP1A2 genes in 100 patients with SHM to search for possible SHM mutations. Novel DNA variants were discovered in eight SHM patients, four in exons of the CACNA1A gene and four in exons of the ATP1A2 gene. Six of the variants were considered non-pathogenic. The causal role of the two remaining DNA variants is unknown until functional studies have been made or independent genetic evidence is discovered. Only very few DNA variants were identified in 100 SHM patients, and regardless of whether the identified variants are causal the CACNA1A and ATP1A2 genes are not major genes in SHM.
Thomsen
L L
LL
Danish Headache Centre, University of Copenhagen, Department of Neurology, Glostrup Hospital, Glostrup, Denmark. llt@dadlnet.dk
Oestergaard
E
E
Bjornsson
A
A
Stefansson
H
H
Fasquel
A C
AC
Gulcher
J
J
Stefansson
K
K
Olesen
J
J
D000293:Adolescent; D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D000818:Animals; D015220:Calcium Channels / Q000235:genetics* / Q000502:physiology; D002648:Child; D002675:Child, Preschool; D016384:Consensus Sequence; D004252:DNA Mutational Analysis; D019143:Evolution, Molecular; D005091:Exons / Q000235:genetics; D005260:Female; D006429:Hemiplegia / Q000209:etiology / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008881:Migraine Disorders / Q000150:complications / Q000235:genetics*; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics* / Q000502:physiology; D013045:Species Specificity; D020864:Calcium Channels, N-Type
D015220:Calcium Channels; D000254:Sodium-Potassium-Exchanging ATPase; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type; C498531:ATP1A2 protein, human