FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2996706493> ?p ?o ?g. }

• W2996706493 endingPage "8" @default.
• W2996706493 startingPage "8" @default.
• W2996706493 abstract "Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by pathogenic variants in the SACS gene and is characterized by ataxia, peripheral neuropathy, pyramidal impairment and episodic conditions such as epilepsy. Paroxysmal kinesigenic dyskinesia (PKD) had not been previously described in ARSACS.We analyzed clinical manifestations and performed whole-exome sequencing (WES) in two independent patients with ARSACS and PKD. Both patients' parents were unaffected. Genetic data were filtered for potential pathogenic variants, searching for de novo mutations suggestive of a dominant disease model or homozygous and compound heterozygous variants of a recessive model. Potential mutations that existed in both patients were generated and subjected to Sanger sequencing. The WES results of 163 PKD patients without additional symptoms from previous experiments were also reviewed.Novel compound heterozygous mutations in the SACS gene were identified in Patient 1 (p.P3007S and p.H3392fs), and a novel homozygous truncating mutation (p.W1376X) was identified in Patient 2. In both patients, each mutant allele was inherited from one of his or her unaffected parents. All 3 mutations were absent in 196 ethnic-matched control chromosomes or in data from the 1000 Genomes Project. No pathogenic variants associated with paroxysmal diseases, especially PKD and episodic ataxia, were identified. In PKD patients without additional symptoms, no homozygous or compound heterozygous variants in the SACS gene were detected.This study expands the clinical phenotype of ARSACS and suggests the inclusion of SACS screening in patients with PKD plus ARSACS." @default.
• W2996706493 created "2019-12-26" @default.
• W2996706493 creator A5017941291 @default.
• W2996706493 creator A5019421547 @default.
• W2996706493 creator A5067491370 @default.
• W2996706493 creator A5073143460 @default.
• W2996706493 creator A5079974007 @default.
• W2996706493 creator A5082280846 @default.
• W2996706493 date "2020-01-01" @default.
• W2996706493 modified "2023-10-16" @default.
• W2996706493 title "Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations" @default.
• W2996706493 cites W1899364599 @default.
• W2996706493 cites W1977730852 @default.
• W2996706493 cites W1993570944 @default.
• W2996706493 cites W2000650440 @default.
• W2996706493 cites W2003934444 @default.
• W2996706493 cites W2035012406 @default.
• W2996706493 cites W2055312296 @default.
• W2996706493 cites W2096009050 @default.
• W2996706493 cites W2108234281 @default.
• W2996706493 cites W2117733752 @default.
• W2996706493 cites W2124985265 @default.
• W2996706493 cites W2130463932 @default.
• W2996706493 cites W2135898291 @default.
• W2996706493 cites W2151144087 @default.
• W2996706493 cites W2214739074 @default.
• W2996706493 cites W2469858408 @default.
• W2996706493 cites W2534123398 @default.
• W2996706493 cites W2790853708 @default.
• W2996706493 doi "https://doi.org/10.21037/atm.2019.11.31" @default.
• W2996706493 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6995733" @default.
• W2996706493 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32055599" @default.
• W2996706493 hasPublicationYear "2020" @default.
• W2996706493 type Work @default.
• W2996706493 sameAs 2996706493 @default.
• W2996706493 citedByCount "13" @default.
• W2996706493 countsByYear W29967064932020 @default.
• W2996706493 countsByYear W29967064932021 @default.
• W2996706493 countsByYear W29967064932022 @default.
• W2996706493 countsByYear W29967064932023 @default.
• W2996706493 crossrefType "journal-article" @default.
• W2996706493 hasAuthorship W2996706493A5017941291 @default.
• W2996706493 hasAuthorship W2996706493A5019421547 @default.
• W2996706493 hasAuthorship W2996706493A5067491370 @default.
• W2996706493 hasAuthorship W2996706493A5073143460 @default.
• W2996706493 hasAuthorship W2996706493A5079974007 @default.
• W2996706493 hasAuthorship W2996706493A5082280846 @default.
• W2996706493 hasBestOaLocation W29967064931 @default.
• W2996706493 hasConcept C104317684 @default.
• W2996706493 hasConcept C118552586 @default.
• W2996706493 hasConcept C12125453 @default.
• W2996706493 hasConcept C127716648 @default.
• W2996706493 hasConcept C142724271 @default.
• W2996706493 hasConcept C16671776 @default.
• W2996706493 hasConcept C180754005 @default.
• W2996706493 hasConcept C189978740 @default.
• W2996706493 hasConcept C2778186239 @default.
• W2996706493 hasConcept C2779134260 @default.
• W2996706493 hasConcept C2779734285 @default.
• W2996706493 hasConcept C2780405171 @default.
• W2996706493 hasConcept C2780906641 @default.
• W2996706493 hasConcept C2781467325 @default.
• W2996706493 hasConcept C501734568 @default.
• W2996706493 hasConcept C54355233 @default.
• W2996706493 hasConcept C71924100 @default.
• W2996706493 hasConcept C76818968 @default.
• W2996706493 hasConcept C86803240 @default.
• W2996706493 hasConceptScore W2996706493C104317684 @default.
• W2996706493 hasConceptScore W2996706493C118552586 @default.
• W2996706493 hasConceptScore W2996706493C12125453 @default.
• W2996706493 hasConceptScore W2996706493C127716648 @default.
• W2996706493 hasConceptScore W2996706493C142724271 @default.
• W2996706493 hasConceptScore W2996706493C16671776 @default.
• W2996706493 hasConceptScore W2996706493C180754005 @default.
• W2996706493 hasConceptScore W2996706493C189978740 @default.
• W2996706493 hasConceptScore W2996706493C2778186239 @default.
• W2996706493 hasConceptScore W2996706493C2779134260 @default.
• W2996706493 hasConceptScore W2996706493C2779734285 @default.
• W2996706493 hasConceptScore W2996706493C2780405171 @default.
• W2996706493 hasConceptScore W2996706493C2780906641 @default.
• W2996706493 hasConceptScore W2996706493C2781467325 @default.
• W2996706493 hasConceptScore W2996706493C501734568 @default.
• W2996706493 hasConceptScore W2996706493C54355233 @default.
• W2996706493 hasConceptScore W2996706493C71924100 @default.
• W2996706493 hasConceptScore W2996706493C76818968 @default.
• W2996706493 hasConceptScore W2996706493C86803240 @default.
• W2996706493 hasIssue "1" @default.
• W2996706493 hasLocation W29967064931 @default.
• W2996706493 hasLocation W29967064932 @default.
• W2996706493 hasLocation W29967064933 @default.
• W2996706493 hasLocation W29967064934 @default.
• W2996706493 hasOpenAccess W2996706493 @default.
• W2996706493 hasPrimaryLocation W29967064931 @default.
• W2996706493 hasRelatedWork W1549216730 @default.
• W2996706493 hasRelatedWork W1969897382 @default.
• W2996706493 hasRelatedWork W1976867041 @default.
• W2996706493 hasRelatedWork W2287693578 @default.
• W2996706493 hasRelatedWork W2464313322 @default.

• next