Rasmussen encephalitis associated with SCN 1 A mutation.
Mutations in the SCN 1 A gene, encoding the neuronal voltage-gated sodium channel alpha1 subunit, cause SMEI, GEFS+, and related epileptic syndromes. We herein report the R1575C-SCN 1 A mutation identified in a patient with Rasmussen encephalitis. R1575C were constructed in a recombinant human SCN 1 A and then heterologously expressed in HEK293 cells along with the human beta1 and beta2 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.
Ohmori
Iori
I
Department of Cellular Physiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan. iori@md.okayama-u.ac.jp
Ouchida
Mamoru
M
Kobayashi
Katsuhiro
K
Jitsumori
Yoshimi
Y
Inoue
Takushi
T
Shimizu
Kenji
K
Matsui
Hideki
H
Ohtsuka
Yoko
Y
Maegaki
Yoshihiro
Y
D002648:Child; D004252:DNA Mutational Analysis; D004569:Electroencephalography / Q000706:statistics & numerical data; D004660:Encephalitis / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D004828:Epilepsies, Partial / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000706:statistics & numerical data; D008564:Membrane Potentials / Q000235:genetics / Q000502:physiology; D009154:Mutation / Q000235:genetics* / Q000502:physiology; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000502:physiology; D009474:Neurons / Q000502:physiology; D018408:Patch-Clamp Techniques; D010375:Pedigree; D010641:Phenotype; D015222:Sodium Channels / Q000235:genetics* / Q000502:physiology; D009435:Synaptic Transmission / Q000235:genetics / Q000502:physiology; D013577:Syndrome; D015899:Tomography, Emission-Computed, Single-Photon
D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels