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

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

35 Citationer (Scopus)

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
Udgivelsesdato: 2008/9

Originalsprog	Engelsk
Tidsskrift	Cephalalgia
Vol/bind	28
Udgave nummer	9
Sider (fra-til)	914-921
Antal sider	7
ISSN	0333-1024
Status	Udgivet - 2008

Citationsformater

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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 Udgivelsesdato: 2008/9",

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

note = "Times Cited: 0ArticleEnglishThomsen, L. LUniv Copenhagen, Glostrup Univ Hosp, Danish Headache Ctr, Dept Neurol, Nordre Ringvej 57, DK-2600 Glostrup, DenmarkCited References Count: 24336PFBLACKWELL PUBLISHING9600 GARSINGTON RD, OXFORD OX4 2DQ, OXON, ENGLANDOXFORD",

year = "2008",

language = "English",

volume = "28",

pages = "914--921",

journal = "Cephalalgia",

issn = "0333-1024",

publisher = "SAGE Publications",

number = "9",

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TY - JOUR

T1 - Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients

AU - Thomsen, L.L.

AU - Oestergaard, E.

AU - Bjornsson, A.

AU - Stefansson, H.

AU - Fasquel, A.C.

AU - Gulcher, J.

AU - Stefansson, K.

AU - Olesen, J.

N1 - Times Cited: 0ArticleEnglishThomsen, L. LUniv Copenhagen, Glostrup Univ Hosp, Danish Headache Ctr, Dept Neurol, Nordre Ringvej 57, DK-2600 Glostrup, DenmarkCited References Count: 24336PFBLACKWELL PUBLISHING9600 GARSINGTON RD, OXFORD OX4 2DQ, OXON, ENGLANDOXFORD

PY - 2008

Y1 - 2008

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 Udgivelsesdato: 2008/9

AB - 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 Udgivelsesdato: 2008/9

M3 - Journal article

SN - 0333-1024

VL - 28

SP - 914

EP - 921

JO - Cephalalgia

JF - Cephalalgia

IS - 9

ER -