| Title |
Identification of ATP1A3 Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients
|
|---|---|
| Published in |
PLOS ONE, February 2013
|
| DOI | 10.1371/journal.pone.0056120 |
| Pubmed ID | |
| Authors |
Atsushi Ishii, Yoshiaki Saito, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Hidee Arai, Sumimasa Yamashita, Sadami Kimura, Hirokazu Oguni, Shinichi Morishita, Shoji Tsuji, Masayuki Sasaki, Shinichi Hirose |
| Abstract |
Alternating hemiplegia of childhood (AHC) is a rare disorder characterized by transient repeated attacks of paresis and cognitive impairment. Recent studies from the U.S. and Europe have described ATP1A3 mutations in AHC. However, the genotype-phenotype relationship remains unclear. The purpose of this study was to identify the genetic abnormality in a Japanese cohort of AHC using exome analysis. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 1 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 53 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 53 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 9 | 17% |
| Other | 7 | 13% |
| Student > Bachelor | 7 | 13% |
| Student > Ph. D. Student | 5 | 9% |
| Professor | 4 | 8% |
| Other | 15 | 28% |
| Unknown | 6 | 11% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 12 | 23% |
| Agricultural and Biological Sciences | 10 | 19% |
| Neuroscience | 9 | 17% |
| Biochemistry, Genetics and Molecular Biology | 7 | 13% |
| Social Sciences | 2 | 4% |
| Other | 4 | 8% |
| Unknown | 9 | 17% |