FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1567755466> ?p ?o ?g. }

• W1567755466 endingPage "1510" @default.
• W1567755466 startingPage "1503" @default.
• W1567755466 abstract "Summary Purpose: Glut 1 deficiency syndrome (DS) is defined by hypoglycorrhachia with normoglycemia, acquired microcephaly, episodic movements, and epilepsy refractory to standard antiepileptic drugs (AEDs). Gold standard treatment is the ketogenic diet (KD), which provides ketones to treat neuroglycopenia. Our purpose is (1) to describe epilepsy phenotypes in a large Glut 1 DS cohort, to facilitate diagnosis; and (2) to describe cases in which non‐KD agents achieved seizure freedom (SF), highlighting potential adjunctive treatments. Methods: Retrospective review of 87 patients with Glut 1 DS (45% female, age range 3 months–35 years, average diagnosis 6.5 years) at Columbia University, from 1989 to 2010. Key Findings: Seventy‐eight (90%) of 87 patients had epilepsy, with average onset at 8 months. Seizures were mixed in 68% (53/78): generalized tonic–clonic (53%), absence (49%), complex partial (37%), myoclonic (27%), drop (26%), tonic (12%), simple partial (3%), and spasms (3%). We describe the first two cases of spasms in Glut 1 DS. Electrophysiologic abnormalities were highly variable over time; only 13 (17%) of 75 had exclusively normal findings. KD was used in 82% (64/78); 67% (41/61) were seizure‐free and 68% of seizure‐free patients (28/41) resolved in <1 week and 76% (31/41) in <1 month. Seven patients achieved SF with broad agents only. Significance: Glut 1 DS is a genetic metabolic encephalopathy with variable focal and multifocal seizure types and electroencephalographic findings. Infants with seizures, spasms, or paroxysmal events should be tested for Glut 1 DS. Evidence is insufficient to recommend specific AEDs as alternatives to KD. Early diagnosis and initiation of KD and prevention of unnecessary AED trials in Glut 1 DS are important goals for the treatment of children with epilepsy." @default.
• W1567755466 created "2016-06-24" @default.
• W1567755466 creator A5012360603 @default.
• W1567755466 creator A5023953066 @default.
• W1567755466 creator A5049873494 @default.
• W1567755466 creator A5050261635 @default.
• W1567755466 creator A5056846876 @default.
• W1567755466 creator A5086796586 @default.
• W1567755466 date "2012-07-19" @default.
• W1567755466 modified "2023-10-17" @default.
• W1567755466 title "Glucose transporter type I deficiency syndrome: Epilepsy phenotypes and outcomes" @default.
• W1567755466 cites W1595776378 @default.
• W1567755466 cites W1964929540 @default.
• W1567755466 cites W1968048563 @default.
• W1567755466 cites W1986020677 @default.
• W1567755466 cites W1992726410 @default.
• W1567755466 cites W1997425654 @default.
• W1567755466 cites W2007000299 @default.
• W1567755466 cites W2007199404 @default.
• W1567755466 cites W2015363567 @default.
• W1567755466 cites W2083003377 @default.
• W1567755466 cites W2090725141 @default.
• W1567755466 cites W2112215838 @default.
• W1567755466 cites W2113786834 @default.
• W1567755466 cites W2132600832 @default.
• W1567755466 cites W2142915529 @default.
• W1567755466 cites W2144018202 @default.
• W1567755466 cites W2145861835 @default.
• W1567755466 cites W2163920589 @default.
• W1567755466 cites W2169256344 @default.
• W1567755466 cites W2316235383 @default.
• W1567755466 cites W2317009303 @default.
• W1567755466 cites W2322833765 @default.
• W1567755466 cites W4255759911 @default.
• W1567755466 doi "https://doi.org/10.1111/j.1528-1167.2012.03592.x" @default.
• W1567755466 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22812641" @default.
• W1567755466 hasPublicationYear "2012" @default.
• W1567755466 type Work @default.
• W1567755466 sameAs 1567755466 @default.
• W1567755466 citedByCount "113" @default.
• W1567755466 countsByYear W15677554662012 @default.
• W1567755466 countsByYear W15677554662013 @default.
• W1567755466 countsByYear W15677554662014 @default.
• W1567755466 countsByYear W15677554662015 @default.
• W1567755466 countsByYear W15677554662016 @default.
• W1567755466 countsByYear W15677554662017 @default.
• W1567755466 countsByYear W15677554662018 @default.
• W1567755466 countsByYear W15677554662019 @default.
• W1567755466 countsByYear W15677554662020 @default.
• W1567755466 countsByYear W15677554662021 @default.
• W1567755466 countsByYear W15677554662022 @default.
• W1567755466 countsByYear W15677554662023 @default.
• W1567755466 crossrefType "journal-article" @default.
• W1567755466 hasAuthorship W1567755466A5012360603 @default.
• W1567755466 hasAuthorship W1567755466A5023953066 @default.
• W1567755466 hasAuthorship W1567755466A5049873494 @default.
• W1567755466 hasAuthorship W1567755466A5050261635 @default.
• W1567755466 hasAuthorship W1567755466A5056846876 @default.
• W1567755466 hasAuthorship W1567755466A5086796586 @default.
• W1567755466 hasBestOaLocation W15677554661 @default.
• W1567755466 hasConcept C118552586 @default.
• W1567755466 hasConcept C126322002 @default.
• W1567755466 hasConcept C167135981 @default.
• W1567755466 hasConcept C187212893 @default.
• W1567755466 hasConcept C2778186239 @default.
• W1567755466 hasConcept C2778201146 @default.
• W1567755466 hasConcept C2778587478 @default.
• W1567755466 hasConcept C2779307984 @default.
• W1567755466 hasConcept C2780874087 @default.
• W1567755466 hasConcept C71924100 @default.
• W1567755466 hasConcept C72563966 @default.
• W1567755466 hasConceptScore W1567755466C118552586 @default.
• W1567755466 hasConceptScore W1567755466C126322002 @default.
• W1567755466 hasConceptScore W1567755466C167135981 @default.
• W1567755466 hasConceptScore W1567755466C187212893 @default.
• W1567755466 hasConceptScore W1567755466C2778186239 @default.
• W1567755466 hasConceptScore W1567755466C2778201146 @default.
• W1567755466 hasConceptScore W1567755466C2778587478 @default.
• W1567755466 hasConceptScore W1567755466C2779307984 @default.
• W1567755466 hasConceptScore W1567755466C2780874087 @default.
• W1567755466 hasConceptScore W1567755466C71924100 @default.
• W1567755466 hasConceptScore W1567755466C72563966 @default.
• W1567755466 hasIssue "9" @default.
• W1567755466 hasLocation W15677554661 @default.
• W1567755466 hasLocation W15677554662 @default.
• W1567755466 hasOpenAccess W1567755466 @default.
• W1567755466 hasPrimaryLocation W15677554661 @default.
• W1567755466 hasRelatedWork W1514833496 @default.
• W1567755466 hasRelatedWork W1567755466 @default.
• W1567755466 hasRelatedWork W1996246031 @default.
• W1567755466 hasRelatedWork W2089104512 @default.
• W1567755466 hasRelatedWork W2520192249 @default.
• W1567755466 hasRelatedWork W2607056020 @default.
• W1567755466 hasRelatedWork W2623102212 @default.
• W1567755466 hasRelatedWork W2905781212 @default.
• W1567755466 hasRelatedWork W4310206108 @default.
• W1567755466 hasRelatedWork W4313443969 @default.
• W1567755466 hasVolume "53" @default.

• next