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

40 Citations (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.

Original language	English
Journal	Cephalalgia : an international journal of headache
Volume	28
Issue number	9
Pages (from-to)	914-21
Number of pages	8
ISSN	0333-1024
DOIs	https://doi.org/10.1111/j.1468-2982.2008.01599.x
Publication status	Published - Sept 2008
Externally published	Yes

Keywords

Adolescent
Adult
Aged
Amino Acid Substitution
Animals
Calcium Channels/genetics
Child
Child, Preschool
Consensus Sequence
DNA Mutational Analysis
Evolution, Molecular
Exons/genetics
Female
Hemiplegia/etiology
Humans
Male
Middle Aged
Migraine Disorders/complications
Mutation, Missense
Polymorphism, Single Nucleotide
Sequence Analysis, DNA
Sequence Homology, Amino Acid
Sodium-Potassium-Exchanging ATPase/genetics
Species Specificity

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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 = "Adolescent, Adult, Aged, Amino Acid Substitution, Animals, Calcium Channels/genetics, Child, Child, Preschool, Consensus Sequence, DNA Mutational Analysis, Evolution, Molecular, Exons/genetics, Female, Hemiplegia/etiology, Humans, Male, Middle Aged, Migraine Disorders/complications, Mutation, Missense, Polymorphism, Single Nucleotide, Sequence Analysis, DNA, Sequence Homology, Amino Acid, Sodium-Potassium-Exchanging ATPase/genetics, Species Specificity",

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",

year = "2008",

month = sep,

doi = "10.1111/j.1468-2982.2008.01599.x",

language = "English",

volume = "28",

pages = "914--21",

journal = "Cephalalgia : an international journal of headache",

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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

PY - 2008/9

Y1 - 2008/9

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.

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.

KW - Adolescent

KW - Adult

KW - Aged

KW - Amino Acid Substitution

KW - Animals

KW - Calcium Channels/genetics

KW - Child

KW - Child, Preschool

KW - Consensus Sequence

KW - DNA Mutational Analysis

KW - Evolution, Molecular

KW - Exons/genetics

KW - Female

KW - Hemiplegia/etiology

KW - Humans

KW - Male

KW - Middle Aged

KW - Migraine Disorders/complications

KW - Mutation, Missense

KW - Polymorphism, Single Nucleotide

KW - Sequence Analysis, DNA

KW - Sequence Homology, Amino Acid

KW - Sodium-Potassium-Exchanging ATPase/genetics

KW - Species Specificity

UR - https://www.scopus.com/pages/publications/49649110929

U2 - 10.1111/j.1468-2982.2008.01599.x

DO - 10.1111/j.1468-2982.2008.01599.x

M3 - Journal article

C2 - 18513263

SN - 0333-1024

VL - 28

SP - 914

EP - 921

JO - Cephalalgia : an international journal of headache

JF - Cephalalgia : an international journal of headache

IS - 9

ER -

Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients

Abstract

Keywords

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