Rasmussen encephalitis associated with SCN1A mutation

• Published in: Epilepsia (Copenhagen) Vol. 49; no. 3; pp. 521 - 526
• Main Authors: Ohmori, Iori, Ouchida, Mamoru, Kobayashi, Katsuhiro, Jitsumori, Yoshimi, Inoue, Takushi, Shimizu, Kenji, Matsui, Hideki, Ohtsuka, Yoko, Maegaki, Yoshihiro
• Format: Journal Article
• Language: English
• Published: Malden, USA Blackwell Publishing Inc 01.03.2008
• Subjects: Genetic‐environmental interaction; Rasmussen encephalitis; SCN1A
• ISSN: 0013-9580; 1528-1167
• DOI: 10.1111/j.1528-1167.2007.01411.x

Summary 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.