TY - JOUR
T1 - Rasmussen encephalitis associated with SCN1A mutation
AU - Ohmori, Iori
AU - Ouchida, Mamoru
AU - Kobayashi, Katsuhiro
AU - Jitsumori, Yoshimi
AU - Inoue, Takushi
AU - Shimizu, Kenji
AU - Matsui, Hideki
AU - Ohtsuka, Yoko
AU - Maegaki, Yoshihiro
PY - 2008/3
Y1 - 2008/3
N2 - 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.
AB - 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.
KW - Genetic-environmental interaction
KW - Rasmussen encephalitis
KW - SCN1A
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UR - http://www.scopus.com/inward/citedby.url?scp=39749177184&partnerID=8YFLogxK
U2 - 10.1111/j.1528-1167.2007.01411.x
DO - 10.1111/j.1528-1167.2007.01411.x
M3 - Article
C2 - 18031552
AN - SCOPUS:39749177184
VL - 49
SP - 521
EP - 526
JO - Epilepsia
JF - Epilepsia
SN - 0013-9580
IS - 3
ER -