Abstract
Familial hemiplegic migraine (FHM) is a rare autosomal dominantly inherited subtype of migraine, in which hemiparesis occurs during the aura. The majority of the families carry mutations in the CACNA1A gene on chromosome 19p13 (FHM1). About 20% of FHM families is linked to chromosome 1q23 (FHM2), and has mutations in the ATP1A2 gene, encoding the α2-subunit of the Na,K-ATPase. Mutation analysis in a Dutch and a Turkish family with pure FHM revealed two novel de novo missense mutations, R593W and V628M, respectively. Cellular survival assays support the hypothesis that both mutations are disease-causative. The identification of the first de novo mutations underscores beyond any doubt the involvement of the ATP1A2 gene in FHM2.
| Original language | English |
|---|---|
| Pages (from-to) | 555-560 |
| Number of pages | 6 |
| Journal | European Journal of Human Genetics |
| Volume | 14 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - May 2006 |
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Keywords
- ATP1A2
- Familial hemiplegic migraine (FHM)
- K-ATPase
- Na
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine. / Vanmolkot, Kaate R J; Kors, Esther E.; Turk, Ulku; Turkdogan, Dylsad; Keyser, Antoine; Broos, Ludo A M; Kia, Sima Kheradmand; van den Heuvel, Jeroen J M W; Black, David F.; Haan, Joost; Frants, Rune R.; Barone, Virginia; Ferrari, Michel D.; Casari, Giorgio; Koenderink, Jan B.; van den Maagdenberg, Arn M J M.
In: European Journal of Human Genetics, Vol. 14, No. 5, 05.2006, p. 555-560.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine
AU - Vanmolkot, Kaate R J
AU - Kors, Esther E.
AU - Turk, Ulku
AU - Turkdogan, Dylsad
AU - Keyser, Antoine
AU - Broos, Ludo A M
AU - Kia, Sima Kheradmand
AU - van den Heuvel, Jeroen J M W
AU - Black, David F.
AU - Haan, Joost
AU - Frants, Rune R.
AU - Barone, Virginia
AU - Ferrari, Michel D.
AU - Casari, Giorgio
AU - Koenderink, Jan B.
AU - van den Maagdenberg, Arn M J M
PY - 2006/5
Y1 - 2006/5
N2 - Familial hemiplegic migraine (FHM) is a rare autosomal dominantly inherited subtype of migraine, in which hemiparesis occurs during the aura. The majority of the families carry mutations in the CACNA1A gene on chromosome 19p13 (FHM1). About 20% of FHM families is linked to chromosome 1q23 (FHM2), and has mutations in the ATP1A2 gene, encoding the α2-subunit of the Na,K-ATPase. Mutation analysis in a Dutch and a Turkish family with pure FHM revealed two novel de novo missense mutations, R593W and V628M, respectively. Cellular survival assays support the hypothesis that both mutations are disease-causative. The identification of the first de novo mutations underscores beyond any doubt the involvement of the ATP1A2 gene in FHM2.
AB - Familial hemiplegic migraine (FHM) is a rare autosomal dominantly inherited subtype of migraine, in which hemiparesis occurs during the aura. The majority of the families carry mutations in the CACNA1A gene on chromosome 19p13 (FHM1). About 20% of FHM families is linked to chromosome 1q23 (FHM2), and has mutations in the ATP1A2 gene, encoding the α2-subunit of the Na,K-ATPase. Mutation analysis in a Dutch and a Turkish family with pure FHM revealed two novel de novo missense mutations, R593W and V628M, respectively. Cellular survival assays support the hypothesis that both mutations are disease-causative. The identification of the first de novo mutations underscores beyond any doubt the involvement of the ATP1A2 gene in FHM2.
KW - ATP1A2
KW - Familial hemiplegic migraine (FHM)
KW - K-ATPase
KW - Na
UR - http://www.scopus.com/inward/record.url?scp=33646062287&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33646062287&partnerID=8YFLogxK
U2 - 10.1038/sj.ejhg.5201607
DO - 10.1038/sj.ejhg.5201607
M3 - Article
C2 - 16538223
AN - SCOPUS:33646062287
VL - 14
SP - 555
EP - 560
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 5
ER -