| Title |
A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2
|
|---|---|
| Published in |
neurogenetics, May 2004
|
| DOI | 10.1007/s10048-004-0178-z |
| Pubmed ID | |
| Authors |
M. A. Kaunisto, H. Harno, K. R. J. Vanmolkot, J. J. Gargus, G. Sun, E. Hämäläinen, E. Liukkonen, M. Kallela, A. M. J. M. van den Maagdenberg, R. R. Frants, M. Färkkilä, A. Palotie, M. Wessman |
| Abstract |
Familial hemiplegic migraine (FHM), a rare autosomal dominant subtype of migraine with aura, has been linked to two chromosomal loci, 19p13 and 1q23. Mutations in the Na+K+-ATPase alpha2 subunit gene, ATP1A2, on 1q23 have recently been shown to cause familial hemiplegic migraine type 2 (FHM2). We sequenced the coding regions of this gene in a Finnish chromosome 1q23-linked FHM family with associated symptoms such as coma and identified a novel A1033G mutation in exon 9. This mutation results in a threonine-to-alanine substitution at codon 345. This residue is located in a highly conserved N-terminal region of the M4-5 loop of the Na+,K+-ATPase. Furthermore, the T345A mutation co-segregated with the disorder in our family and was not present in 132 healthy Finnish control individuals. For these reasons it is most likely the FHM-causing mutation in this family. |
Mendeley readers
The data shown below were compiled from readership statistics for 21 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 5% |
| Unknown | 20 | 95% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Professor | 3 | 14% |
| Student > Bachelor | 3 | 14% |
| Student > Ph. D. Student | 2 | 10% |
| Student > Postgraduate | 2 | 10% |
| Professor > Associate Professor | 2 | 10% |
| Other | 4 | 19% |
| Unknown | 5 | 24% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 5 | 24% |
| Neuroscience | 4 | 19% |
| Biochemistry, Genetics and Molecular Biology | 3 | 14% |
| Agricultural and Biological Sciences | 2 | 10% |
| Unknown | 7 | 33% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 28 May 2008.
All research outputs
#8,882,501
of 26,017,215 outputs
Outputs from neurogenetics
#141
of 412 outputs
Outputs of similar age
#22,181
of 65,384 outputs
Outputs of similar age from neurogenetics
#2
of 4 outputs
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