Results

RDF/XMLNTriplesTurtleShow queryShare
SubjectPredicateObject
http://purl.uniprot.org/citations/24661410http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/24661410http://www.w3.org/2000/01/rdf-schema#comment"

Background

Recently, PRRT2 gene mutations have been identified as a causative factor of paroxysmal kinesigenic dyskinesia (PKD). However, evidence is still lacking with respect to the genotype to phenotype correlation in PKD patients.

Methods

We recruited a cohort of PKD patients with or without PRRT2 mutations for the study, and followed them for 6 months to observe the response to carbamazepine treatment.

Results

Thirty-four participants were included in this study; 16 patients were positive for a hot-spot p.R217Pfs 8 heterozygous PRRT2 gene mutation, while the other 18 patients were negative for PRRT2 gene mutations. PRRT2 mutations were found to be associated with a younger age of onset, bilateral presence and a higher frequency of attacks. Furthermore, the follow-up study revealed that p.R217Pfs 8-positive patients showed dramatic improvement with complete abolition of dyskinetic episodes with carbamazepine treatment, while only 7 of the 18 patients without PRRT2 mutations showed a response to the antiepileptic drug.

Conclusions

Our study indicated that positivity for PRRT2 mutation is a predictor of younger age of onset and more frequent of attacks in PKD patients. Interestingly, the presence of PRRT2 mutations also predicted a good response to carbamazepine therapy, especially at low dose. Therefore, genetic testing shows potential clinical significance for guiding the choice of medication for individual PKD cases."xsd:string
http://purl.uniprot.org/citations/24661410http://purl.org/dc/terms/identifier"doi:10.1016/j.jns.2014.02.034"xsd:string
http://purl.uniprot.org/citations/24661410http://purl.uniprot.org/core/author"Ji Y."xsd:string
http://purl.uniprot.org/citations/24661410http://purl.uniprot.org/core/author"Wu J."xsd:string
http://purl.uniprot.org/citations/24661410http://purl.uniprot.org/core/author"Song B."xsd:string
http://purl.uniprot.org/citations/24661410http://purl.uniprot.org/core/author"Qin J."xsd:string
http://purl.uniprot.org/citations/24661410http://purl.uniprot.org/core/author"Wang J.J."xsd:string
http://purl.uniprot.org/citations/24661410http://purl.uniprot.org/core/author"Li Y.S."xsd:string
http://purl.uniprot.org/citations/24661410http://purl.uniprot.org/core/author"Shi C.H."xsd:string
http://purl.uniprot.org/citations/24661410http://purl.uniprot.org/core/author"Xu Y.M."xsd:string
http://purl.uniprot.org/citations/24661410http://purl.uniprot.org/core/author"Mao C.Y."xsd:string
http://purl.uniprot.org/citations/24661410http://purl.uniprot.org/core/author"Sun S.L."xsd:string
http://purl.uniprot.org/citations/24661410http://purl.uniprot.org/core/author"Shang D.D."xsd:string
http://purl.uniprot.org/citations/24661410http://purl.uniprot.org/core/date"2014"xsd:gYear
http://purl.uniprot.org/citations/24661410http://purl.uniprot.org/core/name"J Neurol Sci"xsd:string
http://purl.uniprot.org/citations/24661410http://purl.uniprot.org/core/pages"91-93"xsd:string
http://purl.uniprot.org/citations/24661410http://purl.uniprot.org/core/title"Genotype-phenotype correlation in a cohort of paroxysmal kinesigenic dyskinesia cases."xsd:string
http://purl.uniprot.org/citations/24661410http://purl.uniprot.org/core/volume"340"xsd:string
http://purl.uniprot.org/citations/24661410http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/24661410
http://purl.uniprot.org/citations/24661410http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/24661410
http://purl.uniprot.org/uniprot/#_Q7Z6L0-mappedCitation-24661410http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/24661410
http://purl.uniprot.org/uniprot/Q7Z6L0http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/24661410