Rasmussen encephalitis associated with SCN1A mutation

Iori Ohmori, Mamoru Ouchida, Katsuhiro Kobayashi, Yoshimi Jitsumori, Takushi Inoue, Kenji Shimizu, Hideki Matsui, Yoko Ohtsuka, Yoshihiro Maegaki

Research output: Contribution to journalArticle

30 Citations (Scopus)

Abstract

Mutations in the SCN1A gene, encoding the neuronal voltage-gated sodium channel α1 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 β1 and β2 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.

Original languageEnglish
Pages (from-to)521-526
Number of pages6
JournalEpilepsia
Volume49
Issue number3
DOIs
Publication statusPublished - Mar 1 2008

Keywords

  • Genetic-environmental interaction
  • Rasmussen encephalitis
  • SCN1A

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Fingerprint Dive into the research topics of 'Rasmussen encephalitis associated with SCN1A mutation'. Together they form a unique fingerprint.

  • Cite this

    Ohmori, I., Ouchida, M., Kobayashi, K., Jitsumori, Y., Inoue, T., Shimizu, K., Matsui, H., Ohtsuka, Y., & Maegaki, Y. (2008). Rasmussen encephalitis associated with SCN1A mutation. Epilepsia, 49(3), 521-526. https://doi.org/10.1111/j.1528-1167.2007.01411.x