Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients

L. L. Thomsen; E. Oestergaard; A. Bjornsson; H. Stefansson; A. C. Fasquel; J. Gulcher; K. Stefansson; J. Olesen

doi:10.1111/j.1468-2982.2008.01599.x

Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients

L. L. Thomsen, E. Oestergaard, A. Bjornsson, H. Stefansson, A. C. Fasquel, J. Gulcher, K. Stefansson, J. Olesen

Faculty of Medicine

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	914-921
Number of pages	8
Journal	Cephalalgia
Volume	28
Issue number	9
DOIs	https://doi.org/10.1111/j.1468-2982.2008.01599.x
Publication status	Published - Sept 2008

Bibliographical note

Funding Information:
We thank the patients with sporadic hemiplegic migraine and their unaffected relatives who agreed to participate. We also thank our colleagues for their excellent collaboration. This study was supported by grants from the Cool sorption Foundation of 1988, the Foundation for Research in Neurology, the Danish Headache Society, the A.P.M⊘ller Foundation for Advancement of Medical Science, the Novo Nordisk Foundation, the IMK-Almene Foundation, Ms Else Torp Foundation and deCODE Genetics.

Other keywords

CACNA1A and ATP1A2 genes
Genetics
Mutations
Sequence analysis
Sporadic hemiplegic migraine

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10.1111/j.1468-2982.2008.01599.x

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title = "Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients",

abstract = "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.",

keywords = "CACNA1A and ATP1A2 genes, Genetics, Mutations, Sequence analysis, Sporadic hemiplegic migraine",

author = "Thomsen, {L. L.} and E. Oestergaard and A. Bjornsson and H. Stefansson and Fasquel, {A. C.} and J. Gulcher and K. Stefansson and J. Olesen",

note = "Funding Information: We thank the patients with sporadic hemiplegic migraine and their unaffected relatives who agreed to participate. We also thank our colleagues for their excellent collaboration. This study was supported by grants from the Cool sorption Foundation of 1988, the Foundation for Research in Neurology, the Danish Headache Society, the A.P.M⊘ller Foundation for Advancement of Medical Science, the Novo Nordisk Foundation, the IMK-Almene Foundation, Ms Else Torp Foundation and deCODE Genetics.",

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AU - Thomsen, L. L.

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AU - Bjornsson, A.

AU - Stefansson, H.

AU - Fasquel, A. C.

AU - Gulcher, J.

AU - Stefansson, K.

AU - Olesen, J.

N1 - Funding Information: We thank the patients with sporadic hemiplegic migraine and their unaffected relatives who agreed to participate. We also thank our colleagues for their excellent collaboration. This study was supported by grants from the Cool sorption Foundation of 1988, the Foundation for Research in Neurology, the Danish Headache Society, the A.P.M⊘ller Foundation for Advancement of Medical Science, the Novo Nordisk Foundation, the IMK-Almene Foundation, Ms Else Torp Foundation and deCODE Genetics.

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N2 - 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.

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Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients

Abstract

Bibliographical note

Other keywords

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