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 journalArticlepeer-review

34 Citations (Scopus)


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
Issue number3
Publication statusPublished - Mar 2008


  • Genetic-environmental interaction
  • Rasmussen encephalitis
  • SCN1A

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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