このエントリーをはてなブックマークに追加
ID 57473
FullText URL
Author
Ohmori, Iori Departments of Cellular Physiology, Graduate School of Medicine,Dentistry and Pharmaceutical Sciences, Okayama University Kakenhi
Ouchida, Mamoru Departments of Molecular Genetics, Graduate School of Medicine,Dentistry and Pharmaceutical Sciences, Okayama University Kakenhi
Kobayashi, Katsuhiro Departments of Child Neurology, Graduate School of Medicine,Dentistry and Pharmaceutical Sciences, Okayama University
Jitsumori, Yoshimi
Inoue, Takushi Departments of Child Neurology, Graduate School of Medicine,Dentistry and Pharmaceutical Sciences, Okayama University
Shimizu, Kenji Departments of Molecular Genetics, Graduate School of Medicine,Dentistry and Pharmaceutical Sciences, Okayama University Kakenhi
Matsui, Hideki Departments of Cellular Physiology, Graduate School of Medicine,Dentistry and Pharmaceutical Sciences, Okayama University Kakenhi
Ohtsuka, Yoko Departments of Child Neurology, Graduate School of Medicine,Dentistry and Pharmaceutical Sciences, Okayama University
Maegaki, Yoshihiro Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University
Abstract
Mutations in the SCN 1 A gene, encoding the neuronal voltage-gated sodium channel alpha1 subunit, cause SMEI, GEFS+, and related epileptic syndromes. We herein report the R1575C-SCN 1 A mutation identified in a patient with Rasmussen encephalitis. R1575C were constructed in a recombinant human SCN 1 A and then heterologously expressed in HEK293 cells along with the human beta1 and beta2 sodium channel accessory subunits. Whole-cell patch-clamp recording was used to define biophysical properties. The R1575C channels exhibited increased channel availability and an increased persistent sodium current in comparison to the wild-type. These defects of electrophysiological properties can result in neuronal hyperexitability. The seizure susceptibility allele may influence the pathogenesis of Rasmussen encephalitis in this case.
Keywords
Rasmussen encephalitis
SCN1A
genetic-environmental interaction
Published Date
2007-11-21
Publication Title
Epilepsia
Volume
volume49
Issue
issue3
Publisher
Blackwell
Start Page
521
End Page
526
ISSN
0013-9580
NCID
AA00180597
Content Type
Journal Article
language
英語
OAI-PMH Set
岡山大学
File Version
author
PubMed ID
DOI
Web of Sience KeyUT
Related Url
isVersionOf https://doi.org/10.1111/j.1528-1167.2007.01411.x