RDF/XMLNTriplesTurtleShow queryShare
SubjectPredicateObject
http://purl.uniprot.org/citations/25297589http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/25297589http://www.w3.org/2000/01/rdf-schema#comment"Proline-rich transmembrane protein 2 (PRRT2), the causative gene of paroxysmal kinesigenic dyskinesias (PKD), benign familial infantile seizures (BFIS) and infantile convulsions with paroxysmal choreoathetosis (ICCA), also causes a variety of neurological paroxysmal disorders. These diseases share the same characteristics which may be due to the same genetic defect. We therefore propose to name them as PRRT2-related paroxysmal disorders (PRPDs) in order to assist clinical diagnosis, treatment and prognosis. This paper has reviewed the clinical phenotype, common features and pathogenesis of the PRPDs."xsd:string
http://purl.uniprot.org/citations/25297589http://purl.org/dc/terms/identifier"doi:10.3760/cma.j.issn.1003-9406.2014.01.012"xsd:string
http://purl.uniprot.org/citations/25297589http://purl.uniprot.org/core/author"Li J."xsd:string
http://purl.uniprot.org/citations/25297589http://purl.uniprot.org/core/author"Li N."xsd:string
http://purl.uniprot.org/citations/25297589http://purl.uniprot.org/core/author"Mao X."xsd:string
http://purl.uniprot.org/citations/25297589http://purl.uniprot.org/core/author"Wang J."xsd:string
http://purl.uniprot.org/citations/25297589http://purl.uniprot.org/core/author"Tang B."xsd:string
http://purl.uniprot.org/citations/25297589http://purl.uniprot.org/core/date"2014"xsd:gYear
http://purl.uniprot.org/citations/25297589http://purl.uniprot.org/core/name"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"xsd:string
http://purl.uniprot.org/citations/25297589http://purl.uniprot.org/core/pages"595-599"xsd:string
http://purl.uniprot.org/citations/25297589http://purl.uniprot.org/core/title"[PRRT2 gene-related paroxysmal disorders]."xsd:string
http://purl.uniprot.org/citations/25297589http://purl.uniprot.org/core/volume"31"xsd:string
http://purl.uniprot.org/citations/25297589http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/25297589
http://purl.uniprot.org/citations/25297589http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/25297589
http://purl.uniprot.org/uniprot/#_Q7Z6L0-mappedCitation-25297589http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/25297589
http://purl.uniprot.org/uniprot/Q7Z6L0http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/25297589