FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3119084077> ?p ?o ?g. }

• W3119084077 endingPage "5" @default.
• W3119084077 startingPage "1" @default.
• W3119084077 abstract "ABSTRACT: Background: Glucose Transporter-1 (GLUT1) Deficiency Syndrome (GLUT1DS) is caused by defective transport of glucose across the blood–brain barrier into brain cells resulting in hypoglycorrhachia due to the heterozygous pathogenic variants in SLC2A1 . We report on the phenotypic spectrum of patients with pediatric GLUT1DS as well as their diagnostic methods from a single center in Canada. Methods: We reviewed patient charts for clinical features, biochemical and molecular genetic investigations, neuroimaging, treatment modalities, and outcomes of patients with GLUT1DS at our institution. Results: There were 13 patients. The most common initial symptom was seizures, with the most common seizure type being absence seizures (85%). Seventy-seven percent of the patients had movement disorders, and dystonia and ataxia were the most common movement disorders. Fifty-four percent of the patients did not have a history of developmental delay during their initial presentation, whereas all patients had developmental delay, intellectual disability, or cognitive dysfunction during their follow-up. All patients had a pathogenic or likely pathogenic variant in SLC2A1 and missense variants were the most common variant type. Conclusion: We present 13 patients with GLUT1DS in the pediatric patient population. Atypical clinical features such as hemiplegia and hemiplegic migraine were present in an infant; there was a high prevalence of absence seizures and movement disorders in our patient population. We report an increased number of patients with GLUT1DS since the introduction of next-generation sequencing in the clinical settings. We believe that GLUT1DS should be included in the differential diagnosis of seizures, movement disorders, and hemiplegic migraine." @default.
• W3119084077 created "2021-01-18" @default.
• W3119084077 creator A5030802063 @default.
• W3119084077 creator A5070785387 @default.
• W3119084077 creator A5083043298 @default.
• W3119084077 creator A5084686659 @default.
• W3119084077 creator A5091155970 @default.
• W3119084077 date "2021-01-12" @default.
• W3119084077 modified "2023-10-16" @default.
• W3119084077 title "Phenotypic and Genotypic Spectrum of Glucose Transporter-1 Deficiency Syndrome" @default.
• W3119084077 cites W1567755466 @default.
• W3119084077 cites W1869770425 @default.
• W3119084077 cites W1909814622 @default.
• W3119084077 cites W2037850931 @default.
• W3119084077 cites W2065972516 @default.
• W3119084077 cites W2081584258 @default.
• W3119084077 cites W2091634606 @default.
• W3119084077 cites W2142915529 @default.
• W3119084077 cites W2163920589 @default.
• W3119084077 cites W2770447328 @default.
• W3119084077 cites W2886294163 @default.
• W3119084077 cites W2893202101 @default.
• W3119084077 cites W2972141338 @default.
• W3119084077 cites W3037444348 @default.
• W3119084077 doi "https://doi.org/10.1017/cjn.2021.3" @default.
• W3119084077 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33431108" @default.
• W3119084077 hasPublicationYear "2021" @default.
• W3119084077 type Work @default.
• W3119084077 sameAs 3119084077 @default.
• W3119084077 citedByCount "7" @default.
• W3119084077 countsByYear W31190840772022 @default.
• W3119084077 countsByYear W31190840772023 @default.
• W3119084077 crossrefType "journal-article" @default.
• W3119084077 hasAuthorship W3119084077A5030802063 @default.
• W3119084077 hasAuthorship W3119084077A5070785387 @default.
• W3119084077 hasAuthorship W3119084077A5083043298 @default.
• W3119084077 hasAuthorship W3119084077A5084686659 @default.
• W3119084077 hasAuthorship W3119084077A5091155970 @default.
• W3119084077 hasBestOaLocation W31190840771 @default.
• W3119084077 hasConcept C104317684 @default.
• W3119084077 hasConcept C118552586 @default.
• W3119084077 hasConcept C126322002 @default.
• W3119084077 hasConcept C127716648 @default.
• W3119084077 hasConcept C161573976 @default.
• W3119084077 hasConcept C187212893 @default.
• W3119084077 hasConcept C2777952866 @default.
• W3119084077 hasConcept C2778186239 @default.
• W3119084077 hasConcept C2778261627 @default.
• W3119084077 hasConcept C2778559928 @default.
• W3119084077 hasConcept C2779134260 @default.
• W3119084077 hasConcept C2779306644 @default.
• W3119084077 hasConcept C2780906641 @default.
• W3119084077 hasConcept C2908647359 @default.
• W3119084077 hasConcept C2908666080 @default.
• W3119084077 hasConcept C54355233 @default.
• W3119084077 hasConcept C551499885 @default.
• W3119084077 hasConcept C71924100 @default.
• W3119084077 hasConcept C75563809 @default.
• W3119084077 hasConcept C86803240 @default.
• W3119084077 hasConcept C99454951 @default.
• W3119084077 hasConceptScore W3119084077C104317684 @default.
• W3119084077 hasConceptScore W3119084077C118552586 @default.
• W3119084077 hasConceptScore W3119084077C126322002 @default.
• W3119084077 hasConceptScore W3119084077C127716648 @default.
• W3119084077 hasConceptScore W3119084077C161573976 @default.
• W3119084077 hasConceptScore W3119084077C187212893 @default.
• W3119084077 hasConceptScore W3119084077C2777952866 @default.
• W3119084077 hasConceptScore W3119084077C2778186239 @default.
• W3119084077 hasConceptScore W3119084077C2778261627 @default.
• W3119084077 hasConceptScore W3119084077C2778559928 @default.
• W3119084077 hasConceptScore W3119084077C2779134260 @default.
• W3119084077 hasConceptScore W3119084077C2779306644 @default.
• W3119084077 hasConceptScore W3119084077C2780906641 @default.
• W3119084077 hasConceptScore W3119084077C2908647359 @default.
• W3119084077 hasConceptScore W3119084077C2908666080 @default.
• W3119084077 hasConceptScore W3119084077C54355233 @default.
• W3119084077 hasConceptScore W3119084077C551499885 @default.
• W3119084077 hasConceptScore W3119084077C71924100 @default.
• W3119084077 hasConceptScore W3119084077C75563809 @default.
• W3119084077 hasConceptScore W3119084077C86803240 @default.
• W3119084077 hasConceptScore W3119084077C99454951 @default.
• W3119084077 hasLocation W31190840771 @default.
• W3119084077 hasLocation W31190840772 @default.
• W3119084077 hasOpenAccess W3119084077 @default.
• W3119084077 hasPrimaryLocation W31190840771 @default.
• W3119084077 hasRelatedWork W1039718725 @default.
• W3119084077 hasRelatedWork W1511335645 @default.
• W3119084077 hasRelatedWork W1518319194 @default.
• W3119084077 hasRelatedWork W2038837225 @default.
• W3119084077 hasRelatedWork W2417442267 @default.
• W3119084077 hasRelatedWork W4309358515 @default.
• W3119084077 hasRelatedWork W4313312890 @default.
• W3119084077 hasRelatedWork W4318192342 @default.
• W3119084077 hasRelatedWork W4376133429 @default.
• W3119084077 hasRelatedWork W4385973395 @default.
• W3119084077 isParatext "false" @default.
• W3119084077 isRetracted "false" @default.
• W3119084077 magId "3119084077" @default.

• next