title: Rasmussen encephalitis associated with SCN 1 A mutation.
abstract: 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.
authors.affiliation: Department of Cellular Physiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan. iori@md.okayama-u.ac.jp
authors.forename: Iori
authors.initials: I
authors.lastname: Ohmori
authors.forename: Mamoru
authors.initials: M
authors.lastname: Ouchida
authors.forename: Katsuhiro
authors.initials: K
authors.lastname: Kobayashi
authors.forename: Yoshimi
authors.initials: Y
authors.lastname: Jitsumori
authors.forename: Takushi
authors.initials: T
authors.lastname: Inoue
authors.forename: Kenji
authors.initials: K
authors.lastname: Shimizu
authors.forename: Hideki
authors.initials: H
authors.lastname: Matsui
authors.forename: Yoko
authors.initials: Y
authors.lastname: Ohtsuka
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Maegaki
mesh_terms: 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
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels