FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2067653375> ?p ?o ?g. }

• W2067653375 endingPage "93" @default.
• W2067653375 startingPage "91" @default.
• W2067653375 abstract "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." @default.
• W2067653375 created "2016-06-24" @default.
• W2067653375 creator A5007277206 @default.
• W2067653375 creator A5009338247 @default.
• W2067653375 creator A5018814383 @default.
• W2067653375 creator A5039526269 @default.
• W2067653375 creator A5040166982 @default.
• W2067653375 creator A5047283512 @default.
• W2067653375 creator A5049088719 @default.
• W2067653375 creator A5061215231 @default.
• W2067653375 creator A5064566684 @default.
• W2067653375 creator A5067221645 @default.
• W2067653375 creator A5088127166 @default.
• W2067653375 date "2014-05-01" @default.
• W2067653375 modified "2023-10-16" @default.
• W2067653375 title "Genotype–phenotype correlation in a cohort of paroxysmal kinesigenic dyskinesia cases" @default.
• W2067653375 cites W1515020540 @default.
• W2067653375 cites W1967868876 @default.
• W2067653375 cites W1970111750 @default.
• W2067653375 cites W1979706691 @default.
• W2067653375 cites W1996191050 @default.
• W2067653375 cites W2001730407 @default.
• W2067653375 cites W2002109801 @default.
• W2067653375 cites W2003934444 @default.
• W2067653375 cites W2004961825 @default.
• W2067653375 cites W2006784658 @default.
• W2067653375 cites W2023614690 @default.
• W2067653375 cites W2043377800 @default.
• W2067653375 cites W2061298819 @default.
• W2067653375 cites W2126980862 @default.
• W2067653375 cites W2130228936 @default.
• W2067653375 cites W2132052757 @default.
• W2067653375 cites W2150377483 @default.
• W2067653375 cites W2164275045 @default.
• W2067653375 cites W2167095243 @default.
• W2067653375 cites W2319826148 @default.
• W2067653375 doi "https://doi.org/10.1016/j.jns.2014.02.034" @default.
• W2067653375 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24661410" @default.
• W2067653375 hasPublicationYear "2014" @default.
• W2067653375 type Work @default.
• W2067653375 sameAs 2067653375 @default.
• W2067653375 citedByCount "20" @default.
• W2067653375 countsByYear W20676533752014 @default.
• W2067653375 countsByYear W20676533752015 @default.
• W2067653375 countsByYear W20676533752016 @default.
• W2067653375 countsByYear W20676533752017 @default.
• W2067653375 countsByYear W20676533752018 @default.
• W2067653375 countsByYear W20676533752019 @default.
• W2067653375 countsByYear W20676533752020 @default.
• W2067653375 countsByYear W20676533752022 @default.
• W2067653375 crossrefType "journal-article" @default.
• W2067653375 hasAuthorship W2067653375A5007277206 @default.
• W2067653375 hasAuthorship W2067653375A5009338247 @default.
• W2067653375 hasAuthorship W2067653375A5018814383 @default.
• W2067653375 hasAuthorship W2067653375A5039526269 @default.
• W2067653375 hasAuthorship W2067653375A5040166982 @default.
• W2067653375 hasAuthorship W2067653375A5047283512 @default.
• W2067653375 hasAuthorship W2067653375A5049088719 @default.
• W2067653375 hasAuthorship W2067653375A5061215231 @default.
• W2067653375 hasAuthorship W2067653375A5064566684 @default.
• W2067653375 hasAuthorship W2067653375A5067221645 @default.
• W2067653375 hasAuthorship W2067653375A5088127166 @default.
• W2067653375 hasConcept C104317684 @default.
• W2067653375 hasConcept C118552586 @default.
• W2067653375 hasConcept C126322002 @default.
• W2067653375 hasConcept C135763542 @default.
• W2067653375 hasConcept C189978740 @default.
• W2067653375 hasConcept C2777767895 @default.
• W2067653375 hasConcept C2778186239 @default.
• W2067653375 hasConcept C2779134260 @default.
• W2067653375 hasConcept C2779253243 @default.
• W2067653375 hasConcept C2779734285 @default.
• W2067653375 hasConcept C2780405171 @default.
• W2067653375 hasConcept C54355233 @default.
• W2067653375 hasConcept C71924100 @default.
• W2067653375 hasConcept C72563966 @default.
• W2067653375 hasConcept C86803240 @default.
• W2067653375 hasConcept C90924648 @default.
• W2067653375 hasConceptScore W2067653375C104317684 @default.
• W2067653375 hasConceptScore W2067653375C118552586 @default.
• W2067653375 hasConceptScore W2067653375C126322002 @default.
• W2067653375 hasConceptScore W2067653375C135763542 @default.
• W2067653375 hasConceptScore W2067653375C189978740 @default.
• W2067653375 hasConceptScore W2067653375C2777767895 @default.
• W2067653375 hasConceptScore W2067653375C2778186239 @default.
• W2067653375 hasConceptScore W2067653375C2779134260 @default.
• W2067653375 hasConceptScore W2067653375C2779253243 @default.
• W2067653375 hasConceptScore W2067653375C2779734285 @default.
• W2067653375 hasConceptScore W2067653375C2780405171 @default.
• W2067653375 hasConceptScore W2067653375C54355233 @default.
• W2067653375 hasConceptScore W2067653375C71924100 @default.
• W2067653375 hasConceptScore W2067653375C72563966 @default.
• W2067653375 hasConceptScore W2067653375C86803240 @default.
• W2067653375 hasConceptScore W2067653375C90924648 @default.
• W2067653375 hasIssue "1-2" @default.
• W2067653375 hasLocation W20676533751 @default.
• W2067653375 hasLocation W20676533752 @default.
• W2067653375 hasOpenAccess W2067653375 @default.

• next