2008年3月
Rasmussen encephalitis associated with SCN1A mutation
EPILEPSIA
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- 巻
- 49
- 号
- 3
- 開始ページ
- 521
- 終了ページ
- 526
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1111/j.1528-1167.2007.01411.x
- 出版者・発行元
- BLACKWELL PUBLISHING
Mutations in the SCN1A gene, encoding the neuronal voltage-gated sodium channel alpha 1 subunit, cause SMEI, GEFS+, and related epileptic syndromes. We herein report the R1575C-SCN1A mutation identified in a patient with Rasmussen encephalitis. R1575C were constructed in a recombinant human SCN1A and then heterologously expressed in HEK293 cells along with the human beta 1 and beta 2 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.
- リンク情報
- ID情報
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- DOI : 10.1111/j.1528-1167.2007.01411.x
- ISSN : 0013-9580
- PubMed ID : 18031552
- Web of Science ID : WOS:000253477800020