Title |
Identification of ATP1A3 Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients
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Published in |
PLOS ONE, February 2013
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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 55 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 55 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 9 | 16% |
Other | 7 | 13% |
Student > Bachelor | 7 | 13% |
Student > Ph. D. Student | 6 | 11% |
Professor | 4 | 7% |
Other | 16 | 29% |
Unknown | 6 | 11% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 12 | 22% |
Agricultural and Biological Sciences | 11 | 20% |
Neuroscience | 10 | 18% |
Biochemistry, Genetics and Molecular Biology | 7 | 13% |
Social Sciences | 2 | 4% |
Other | 4 | 7% |
Unknown | 9 | 16% |