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| http://purl.uniprot.org/citations/14769375 | http://www.w3.org/2000/01/rdf-schema#comment | "The med(J) mouse with twisting movements related to deficiency of the sodium channel Scn8a has been proposed as a model of kinesiogenic dystonia. This prompted us to examine the phenotype of these mice in more detail. By cortical electroencephalographic (EEG) recordings, we could not detect any changes, demonstrating that the motor disturbances are not epileptic in nature, an important similarity to human dystonia. The significantly decreased body weight of med(J) mice was related to reduced food intake. Observations in the open field and by video recordings revealed that the mice exhibit sustained abnormal postures and movements of limbs, trunk and tail not only during locomotor activity but also at rest. With the exception of the head tremor, the other motor impairments were persistent rather than paroxysmal. When several neurological reflexes were tested, alterations were restricted to the posture and righting reflexes. Results of the wire hang test confirmed the greatly reduced muscle strength in the med(J) mouse. In agreement with different types of human dystonia, biperiden, haloperidol and diazepam moderately reduced the severity of motor disturbances in med(J) mice. In view of the sodium channel deficiency in med(J) mice, the beneficial effects of the sodium channel blocker phenytoin was an unexpected finding. By immunohistochemical examinations, the density of nigral dopaminergic neurons was found to be unaltered, substantiating the absence of pathomorphological abnormalities within the brain of med(J) mice shown by previous studies. With the exception of muscle weakness, many of the features of the med(J) mouse are similar to human idiopathic dystonia."xsd:string |
| http://purl.uniprot.org/citations/14769375 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0014-4886(03)00290-5"xsd:string |
| http://purl.uniprot.org/citations/14769375 | http://purl.uniprot.org/core/author | "Richter A."xsd:string |
| http://purl.uniprot.org/citations/14769375 | http://purl.uniprot.org/core/author | "Meisler M.H."xsd:string |
| http://purl.uniprot.org/citations/14769375 | http://purl.uniprot.org/core/author | "Hamann M."xsd:string |
| http://purl.uniprot.org/citations/14769375 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
| http://purl.uniprot.org/citations/14769375 | http://purl.uniprot.org/core/name | "Exp Neurol"xsd:string |
| http://purl.uniprot.org/citations/14769375 | http://purl.uniprot.org/core/pages | "830-838"xsd:string |
| http://purl.uniprot.org/citations/14769375 | http://purl.uniprot.org/core/title | "Motor disturbances in mice with deficiency of the sodium channel gene Scn8a show features of human dystonia."xsd:string |
| http://purl.uniprot.org/citations/14769375 | http://purl.uniprot.org/core/volume | "184"xsd:string |
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