FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2518392362> ?p ?o ?g. }

• W2518392362 endingPage "3007" @default.
• W2518392362 startingPage "3004" @default.
• W2518392362 abstract "The FARS2 gene encodes the mitochondrial phenylalanyl-tRNA synthetase and is implicated in autosomal recessive combined oxidative phosphorylation deficiency 14, a clinical condition characterized by infantile onset epilepsy and encephalopathy. Mutations in FARS2 have been reported in only few patients, but a detailed description of seizures, electroencephalographic patterns, magnetic resonance imaging findings, and long-term follow-up is still needed. We provide a clinical report of a child with FARS2-related disease manifesting drug-resistant infantile spasms associated with focal seizures. By comparative genomic hybridization analysis we identified a heterozygous microdeletion in the short arm of chromosome 6, inherited from the mother, that encompasses the first coding exon of FARS2. By sequencing of the FARS2 gene we identified a variant c.1156C>G; p.(R386G), inherited from the father. By using standard spectrophotometric techniques in skin fibroblasts, we found a combined abnormality of complexes I and IV of the mitochondrial respiratory chain. The main clinical features of the patient included axial hypotonia, mild distal hypertonia, and psychomotor delay. The magnetic resonance imaging showed microcephaly, frontal cerebral atrophy, and signal changes of dentate nuclei. At the age of 3 years and 6 months, the patient was still under treatment with vigabatrin and he has been seizure free for the last 23 months. © 2016 Wiley Periodicals, Inc." @default.
• W2518392362 created "2016-09-16" @default.
• W2518392362 creator A5002229879 @default.
• W2518392362 creator A5014835875 @default.
• W2518392362 creator A5022723863 @default.
• W2518392362 creator A5069271207 @default.
• W2518392362 creator A5070209892 @default.
• W2518392362 creator A5076170457 @default.
• W2518392362 creator A5080435869 @default.
• W2518392362 creator A5082056933 @default.
• W2518392362 creator A5085164050 @default.
• W2518392362 creator A5085639451 @default.
• W2518392362 creator A5085690040 @default.
• W2518392362 date "2016-08-23" @default.
• W2518392362 modified "2023-10-09" @default.
• W2518392362 title "Clinical findings in a patient with<i>FARS2</i>mutations and early-infantile-encephalopathy with epilepsy" @default.
• W2518392362 cites W1594274983 @default.
• W2518392362 cites W2031723973 @default.
• W2518392362 cites W2089541130 @default.
• W2518392362 cites W2098583336 @default.
• W2518392362 cites W2099580353 @default.
• W2518392362 cites W2101472064 @default.
• W2518392362 cites W2105095050 @default.
• W2518392362 cites W2134507595 @default.
• W2518392362 doi "https://doi.org/10.1002/ajmg.a.37836" @default.
• W2518392362 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27549011" @default.
• W2518392362 hasPublicationYear "2016" @default.
• W2518392362 type Work @default.
• W2518392362 sameAs 2518392362 @default.
• W2518392362 citedByCount "22" @default.
• W2518392362 countsByYear W25183923622017 @default.
• W2518392362 countsByYear W25183923622018 @default.
• W2518392362 countsByYear W25183923622019 @default.
• W2518392362 countsByYear W25183923622020 @default.
• W2518392362 countsByYear W25183923622021 @default.
• W2518392362 countsByYear W25183923622022 @default.
• W2518392362 countsByYear W25183923622023 @default.
• W2518392362 crossrefType "journal-article" @default.
• W2518392362 hasAuthorship W2518392362A5002229879 @default.
• W2518392362 hasAuthorship W2518392362A5014835875 @default.
• W2518392362 hasAuthorship W2518392362A5022723863 @default.
• W2518392362 hasAuthorship W2518392362A5069271207 @default.
• W2518392362 hasAuthorship W2518392362A5070209892 @default.
• W2518392362 hasAuthorship W2518392362A5076170457 @default.
• W2518392362 hasAuthorship W2518392362A5080435869 @default.
• W2518392362 hasAuthorship W2518392362A5082056933 @default.
• W2518392362 hasAuthorship W2518392362A5085164050 @default.
• W2518392362 hasAuthorship W2518392362A5085639451 @default.
• W2518392362 hasAuthorship W2518392362A5085690040 @default.
• W2518392362 hasConcept C104317684 @default.
• W2518392362 hasConcept C118552586 @default.
• W2518392362 hasConcept C12125453 @default.
• W2518392362 hasConcept C126322002 @default.
• W2518392362 hasConcept C142724271 @default.
• W2518392362 hasConcept C187212893 @default.
• W2518392362 hasConcept C204787440 @default.
• W2518392362 hasConcept C24586158 @default.
• W2518392362 hasConcept C2775858608 @default.
• W2518392362 hasConcept C2776202747 @default.
• W2518392362 hasConcept C2776395126 @default.
• W2518392362 hasConcept C2777614518 @default.
• W2518392362 hasConcept C2778186239 @default.
• W2518392362 hasConcept C2778201146 @default.
• W2518392362 hasConcept C2778621155 @default.
• W2518392362 hasConcept C2779546488 @default.
• W2518392362 hasConcept C2779717322 @default.
• W2518392362 hasConcept C2780837902 @default.
• W2518392362 hasConcept C2781172350 @default.
• W2518392362 hasConcept C28859421 @default.
• W2518392362 hasConcept C3020377403 @default.
• W2518392362 hasConcept C501734568 @default.
• W2518392362 hasConcept C54355233 @default.
• W2518392362 hasConcept C71924100 @default.
• W2518392362 hasConcept C75563809 @default.
• W2518392362 hasConcept C86803240 @default.
• W2518392362 hasConceptScore W2518392362C104317684 @default.
• W2518392362 hasConceptScore W2518392362C118552586 @default.
• W2518392362 hasConceptScore W2518392362C12125453 @default.
• W2518392362 hasConceptScore W2518392362C126322002 @default.
• W2518392362 hasConceptScore W2518392362C142724271 @default.
• W2518392362 hasConceptScore W2518392362C187212893 @default.
• W2518392362 hasConceptScore W2518392362C204787440 @default.
• W2518392362 hasConceptScore W2518392362C24586158 @default.
• W2518392362 hasConceptScore W2518392362C2775858608 @default.
• W2518392362 hasConceptScore W2518392362C2776202747 @default.
• W2518392362 hasConceptScore W2518392362C2776395126 @default.
• W2518392362 hasConceptScore W2518392362C2777614518 @default.
• W2518392362 hasConceptScore W2518392362C2778186239 @default.
• W2518392362 hasConceptScore W2518392362C2778201146 @default.
• W2518392362 hasConceptScore W2518392362C2778621155 @default.
• W2518392362 hasConceptScore W2518392362C2779546488 @default.
• W2518392362 hasConceptScore W2518392362C2779717322 @default.
• W2518392362 hasConceptScore W2518392362C2780837902 @default.
• W2518392362 hasConceptScore W2518392362C2781172350 @default.
• W2518392362 hasConceptScore W2518392362C28859421 @default.
• W2518392362 hasConceptScore W2518392362C3020377403 @default.
• W2518392362 hasConceptScore W2518392362C501734568 @default.
• W2518392362 hasConceptScore W2518392362C54355233 @default.

• next