| http://purl.uniprot.org/citations/11371648 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11371648 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11371648 | http://www.w3.org/2000/01/rdf-schema#comment | "Generalized epilepsy with febrile seizures plus (GEFS+), a clinical subset of febrile seizures (FS), is characterized by frequent episodes beyond 6 years of age (FS+) and various types of subsequent epilepsy. Mutations in beta1 and alpha(I)-subunit genes of voltage-gated Na(+) channels have been associated with GEFS+1 and 2, respectively. Here, we report a mutation resulting in an amino acid exchange (R188W) [corrected] in the gene encoding the alpha-subunit of neuronal voltage-gated Na(+) channel type II (Na(v)1.2) in a patient with FS associated with afebrile seizures. The mutation R188W [corrected] occurring on Arg(187), a highly conserved residue among voltage-gated Na(+) channels, was not found in 224 alleles of unaffected individuals. Whole-cell patch clamp recordings on human embryonic kidney (HEK) cells expressing a rat wild-type (rNa(v)1.2) and the corresponding mutant channels showed that the mutant channel inactivated more slowly than wild-type whereas the Na(+) channel conductance was not affected. Prolonged residence in the open state of the R188W [corrected] mutant channel may augment Na(+) influx and thereby underlie the neuronal hyperexcitability that induces seizure activity. Even though a small pedigree could not show clear cosegregation with the disease phenotype, these findings strongly suggest the involvement of Na(v)1.2 in a human disease and propose the R188W [corrected] mutation as the genetic defect responsible for febrile seizures associated with afebrile seizures."xsd:string |
| http://purl.uniprot.org/citations/11371648 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.111065098"xsd:string |
| http://purl.uniprot.org/citations/11371648 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.111065098"xsd:string |
| http://purl.uniprot.org/citations/11371648 | http://purl.uniprot.org/core/author | "Ito M."xsd:string |
| http://purl.uniprot.org/citations/11371648 | http://purl.uniprot.org/core/author | "Ito M."xsd:string |
| http://purl.uniprot.org/citations/11371648 | http://purl.uniprot.org/core/author | "Montal M."xsd:string |
| http://purl.uniprot.org/citations/11371648 | http://purl.uniprot.org/core/author | "Montal M."xsd:string |
| http://purl.uniprot.org/citations/11371648 | http://purl.uniprot.org/core/author | "Wada K."xsd:string |
| http://purl.uniprot.org/citations/11371648 | http://purl.uniprot.org/core/author | "Wada K."xsd:string |
| http://purl.uniprot.org/citations/11371648 | http://purl.uniprot.org/core/author | "Nagata K."xsd:string |
| http://purl.uniprot.org/citations/11371648 | http://purl.uniprot.org/core/author | "Nagata K."xsd:string |
| http://purl.uniprot.org/citations/11371648 | http://purl.uniprot.org/core/author | "Hirose S."xsd:string |
| http://purl.uniprot.org/citations/11371648 | http://purl.uniprot.org/core/author | "Hirose S."xsd:string |
| http://purl.uniprot.org/citations/11371648 | http://purl.uniprot.org/core/author | "Imoto K."xsd:string |
| http://purl.uniprot.org/citations/11371648 | http://purl.uniprot.org/core/author | "Imoto K."xsd:string |
| http://purl.uniprot.org/citations/11371648 | http://purl.uniprot.org/core/author | "Noda M."xsd:string |
| http://purl.uniprot.org/citations/11371648 | http://purl.uniprot.org/core/author | "Noda M."xsd:string |
| http://purl.uniprot.org/citations/11371648 | http://purl.uniprot.org/core/author | "Kaneko S."xsd:string |
| http://purl.uniprot.org/citations/11371648 | http://purl.uniprot.org/core/author | "Kaneko S."xsd:string |
| http://purl.uniprot.org/citations/11371648 | http://purl.uniprot.org/core/author | "Mitsudome A."xsd:string |
| http://purl.uniprot.org/citations/11371648 | http://purl.uniprot.org/core/author | "Mitsudome A."xsd:string |
| http://purl.uniprot.org/citations/11371648 | http://purl.uniprot.org/core/author | "Yamakawa K."xsd:string |
| http://purl.uniprot.org/citations/11371648 | http://purl.uniprot.org/core/author | "Yamakawa K."xsd:string |