| http://purl.uniprot.org/citations/22832103 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22832103 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22832103 | http://www.w3.org/2000/01/rdf-schema#comment | "Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is an episodic movement disorder with autosomal-dominant inheritance and high penetrance, but the causative genetic mutation is unknown. We have now identified four truncating mutations involving the gene PRRT2 in the vast majority (24/25) of well-characterized families with PKD/IC. PRRT2 truncating mutations were also detected in 28 of 78 additional families. PRRT2 encodes a proline-rich transmembrane protein of unknown function that has been reported to interact with the t-SNARE, SNAP25. PRRT2 localizes to axons but not to dendritic processes in primary neuronal culture, and mutants associated with PKD/IC lead to dramatically reduced PRRT2 levels, leading ultimately to neuronal hyperexcitability that manifests in vivo as PKD/IC."xsd:string |
| http://purl.uniprot.org/citations/22832103 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.celrep.2011.11.001"xsd:string |
| http://purl.uniprot.org/citations/22832103 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.celrep.2011.11.001"xsd:string |
| http://purl.uniprot.org/citations/22832103 | http://purl.uniprot.org/core/author | "Huang Y."xsd:string |
| http://purl.uniprot.org/citations/22832103 | http://purl.uniprot.org/core/author | "Huang Y."xsd:string |
| http://purl.uniprot.org/citations/22832103 | http://purl.uniprot.org/core/author | "Edwards R."xsd:string |
| http://purl.uniprot.org/citations/22832103 | http://purl.uniprot.org/core/author | "Edwards R."xsd:string |
| http://purl.uniprot.org/citations/22832103 | http://purl.uniprot.org/core/author | "Hirsch E."xsd:string |
| http://purl.uniprot.org/citations/22832103 | http://purl.uniprot.org/core/author | "Hirsch E."xsd:string |
| http://purl.uniprot.org/citations/22832103 | http://purl.uniprot.org/core/author | "Lee H.Y."xsd:string |
| http://purl.uniprot.org/citations/22832103 | http://purl.uniprot.org/core/author | "Lee H.Y."xsd:string |
| http://purl.uniprot.org/citations/22832103 | http://purl.uniprot.org/core/author | "Maas J."xsd:string |
| http://purl.uniprot.org/citations/22832103 | http://purl.uniprot.org/core/author | "Maas J."xsd:string |
| http://purl.uniprot.org/citations/22832103 | http://purl.uniprot.org/core/author | "Mohammed S."xsd:string |
| http://purl.uniprot.org/citations/22832103 | http://purl.uniprot.org/core/author | "Mohammed S."xsd:string |
| http://purl.uniprot.org/citations/22832103 | http://purl.uniprot.org/core/author | "Wood N."xsd:string |
| http://purl.uniprot.org/citations/22832103 | http://purl.uniprot.org/core/author | "Wood N."xsd:string |
| http://purl.uniprot.org/citations/22832103 | http://purl.uniprot.org/core/author | "Mueller U."xsd:string |
| http://purl.uniprot.org/citations/22832103 | http://purl.uniprot.org/core/author | "Mueller U."xsd:string |
| http://purl.uniprot.org/citations/22832103 | http://purl.uniprot.org/core/author | "Houlden H."xsd:string |
| http://purl.uniprot.org/citations/22832103 | http://purl.uniprot.org/core/author | "Houlden H."xsd:string |
| http://purl.uniprot.org/citations/22832103 | http://purl.uniprot.org/core/author | "Saiki S."xsd:string |
| http://purl.uniprot.org/citations/22832103 | http://purl.uniprot.org/core/author | "Saiki S."xsd:string |