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.
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Child
-
DNA Mutational Analysis
-
Electroencephalography / statistics & numerical data
-
Encephalitis / diagnosis
-
Encephalitis / genetics*
-
Encephalitis / physiopathology
-
Epilepsies, Partial / diagnosis
-
Epilepsies, Partial / genetics*
-
Epilepsies, Partial / physiopathology
-
Female
-
Genetic Predisposition to Disease / genetics
-
Humans
-
Magnetic Resonance Imaging / statistics & numerical data
-
Membrane Potentials / genetics
-
Membrane Potentials / physiology
-
Mutation / genetics*
-
Mutation / physiology
-
NAV1.1 Voltage-Gated Sodium Channel
-
Nerve Tissue Proteins / genetics*
-
Nerve Tissue Proteins / physiology
-
Neurons / physiology
-
Patch-Clamp Techniques
-
Pedigree
-
Phenotype
-
Sodium Channels / genetics*
-
Sodium Channels / physiology
-
Synaptic Transmission / genetics
-
Synaptic Transmission / physiology
-
Syndrome
-
Tomography, Emission-Computed, Single-Photon
Substances
-
NAV1.1 Voltage-Gated Sodium Channel
-
Nerve Tissue Proteins
-
SCN1A protein, human
-
Sodium Channels