| Title |
Three novel KCNA1 mutations in episodic ataxia type I families
|
|---|---|
| Published in |
Human Genetics, April 1998
|
| DOI | 10.1007/s004390050722 |
| Pubmed ID | |
| Authors |
H. Scheffer, E. R. P. Brunt, G. J. J. Mol, P. van der Vlies, Stulp, E. Verlind, G. Mantel, Y. N. Averyanov, R. M. W. Hofstra, C. H. C. M. Buys |
| Abstract |
Hereditary paroxysmal ataxia, or episodic ataxia (EA), is a rare, genetically heterogeneous neurological disorder characterized by attacks of generalized ataxia. By direct sequence analysis, a different missense mutation of the potassium channel gene (KCNA1) has been identified in three families with EA. |
Mendeley readers
The data shown below were compiled from readership statistics for 13 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 13 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 3 | 23% |
| Student > Bachelor | 2 | 15% |
| Other | 2 | 15% |
| Student > Ph. D. Student | 2 | 15% |
| Professor > Associate Professor | 1 | 8% |
| Other | 0 | 0% |
| Unknown | 3 | 23% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 3 | 23% |
| Neuroscience | 2 | 15% |
| Agricultural and Biological Sciences | 2 | 15% |
| Pharmacology, Toxicology and Pharmaceutical Science | 1 | 8% |
| Veterinary Science and Veterinary Medicine | 1 | 8% |
| Other | 0 | 0% |
| Unknown | 4 | 31% |
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 06 June 2008.
All research outputs
#8,534,976
of 25,374,647 outputs
Outputs from Human Genetics
#1,014
of 2,957 outputs
Outputs of similar age
#10,370
of 32,424 outputs
Outputs of similar age from Human Genetics
#6
of 23 outputs
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So far Altmetric has tracked 2,957 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.0. This one is in the 22nd percentile – i.e., 22% of its peers scored the same or lower than it.
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