FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3010597400> ?p ?o ?g. }

• W3010597400 endingPage "448" @default.
• W3010597400 startingPage "438" @default.
• W3010597400 abstract "Abstract Background Early-onset developmental and epileptic encephalopathy (DEE) is characterized by repeated seizures beginning within 3 months of birth and severe interictal epileptiform discharge, including burst suppression. This study assessed the utility of targeted gene panel sequencing in the genetic diagnosis of this disease. Materials and methods Targeted gene panel sequencing was performed in 150 early infantile-onset DEE patients (≤3 months of age), and we extensively reviewed their clinical characteristics, including therapeutic efficacy, according to genotype. Results Of the early infantile-onset DEE patients, 70 were neonatal-onset DEE and the other 80 patients began experiencing seizures from 1 to 3 months after birth. There were 11 different pathogenic or likely pathogenic variants among 34.7% (52/150) of patients with early infantile-onset DEE, in whom KCNQ2, STXBP1, CDKL5, and SCN1A were the major pathogenic variants. Among the neonatal-onset DEE patients, pathological genes were identified in 42.9% (30/70), indicating a significantly higher diagnostic yield than in 27.5% (22/80) of patients who experienced seizure onset 1 to 3 months after birth (p = 0.048). Among the neonatal-onset DEE group, variants in KCNQ2, STXBP1, and CDKL5 were detected at high frequencies, accounting for 66.7% (20/30) of the pathogenic or likely pathogenic variants found in this study. Conclusion Targeted gene panel sequencing demonstrated a high yield of pathogenic variants in the diagnosis of early-onset epileptic encephalopathy, especially in those with neonatal-onset DEE. Early diagnosis of early-onset epileptic encephalopathy may improve the prognosis of patients by earlier selection of appropriate treatment based on pathogenic variant." @default.
• W3010597400 created "2020-03-13" @default.
• W3010597400 creator A5000433403 @default.
• W3010597400 creator A5020960549 @default.
• W3010597400 creator A5022774680 @default.
• W3010597400 creator A5030104968 @default.
• W3010597400 creator A5055315261 @default.
• W3010597400 creator A5055522625 @default.
• W3010597400 creator A5057714776 @default.
• W3010597400 creator A5073041653 @default.
• W3010597400 creator A5074516418 @default.
• W3010597400 creator A5090633270 @default.
• W3010597400 date "2020-06-01" @default.
• W3010597400 modified "2023-10-01" @default.
• W3010597400 title "Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy" @default.
• W3010597400 cites W1558757561 @default.
• W3010597400 cites W1662697425 @default.
• W3010597400 cites W1749057191 @default.
• W3010597400 cites W1825041918 @default.
• W3010597400 cites W1922805558 @default.
• W3010597400 cites W1970585366 @default.
• W3010597400 cites W2016648838 @default.
• W3010597400 cites W2051978340 @default.
• W3010597400 cites W2065972516 @default.
• W3010597400 cites W2209781982 @default.
• W3010597400 cites W2296516270 @default.
• W3010597400 cites W2412203187 @default.
• W3010597400 cites W2531287949 @default.
• W3010597400 cites W2594239788 @default.
• W3010597400 cites W2604505267 @default.
• W3010597400 cites W2605565093 @default.
• W3010597400 cites W2737342031 @default.
• W3010597400 cites W2751063850 @default.
• W3010597400 cites W2790051543 @default.
• W3010597400 cites W2792573124 @default.
• W3010597400 cites W2799744427 @default.
• W3010597400 cites W2810222205 @default.
• W3010597400 cites W2846779511 @default.
• W3010597400 cites W2883064449 @default.
• W3010597400 cites W2886592240 @default.
• W3010597400 cites W2891335670 @default.
• W3010597400 cites W2892937632 @default.
• W3010597400 cites W2895740282 @default.
• W3010597400 doi "https://doi.org/10.1016/j.braindev.2020.02.004" @default.
• W3010597400 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32139178" @default.
• W3010597400 hasPublicationYear "2020" @default.
• W3010597400 type Work @default.
• W3010597400 sameAs 3010597400 @default.
• W3010597400 citedByCount "25" @default.
• W3010597400 countsByYear W30105974002020 @default.
• W3010597400 countsByYear W30105974002021 @default.
• W3010597400 countsByYear W30105974002022 @default.
• W3010597400 countsByYear W30105974002023 @default.
• W3010597400 crossrefType "journal-article" @default.
• W3010597400 hasAuthorship W3010597400A5000433403 @default.
• W3010597400 hasAuthorship W3010597400A5020960549 @default.
• W3010597400 hasAuthorship W3010597400A5022774680 @default.
• W3010597400 hasAuthorship W3010597400A5030104968 @default.
• W3010597400 hasAuthorship W3010597400A5055315261 @default.
• W3010597400 hasAuthorship W3010597400A5055522625 @default.
• W3010597400 hasAuthorship W3010597400A5057714776 @default.
• W3010597400 hasAuthorship W3010597400A5073041653 @default.
• W3010597400 hasAuthorship W3010597400A5074516418 @default.
• W3010597400 hasAuthorship W3010597400A5090633270 @default.
• W3010597400 hasConcept C118552586 @default.
• W3010597400 hasConcept C15744967 @default.
• W3010597400 hasConcept C169760540 @default.
• W3010597400 hasConcept C187212893 @default.
• W3010597400 hasConcept C2778186239 @default.
• W3010597400 hasConcept C2778621155 @default.
• W3010597400 hasConcept C2910479173 @default.
• W3010597400 hasConcept C71924100 @default.
• W3010597400 hasConceptScore W3010597400C118552586 @default.
• W3010597400 hasConceptScore W3010597400C15744967 @default.
• W3010597400 hasConceptScore W3010597400C169760540 @default.
• W3010597400 hasConceptScore W3010597400C187212893 @default.
• W3010597400 hasConceptScore W3010597400C2778186239 @default.
• W3010597400 hasConceptScore W3010597400C2778621155 @default.
• W3010597400 hasConceptScore W3010597400C2910479173 @default.
• W3010597400 hasConceptScore W3010597400C71924100 @default.
• W3010597400 hasIssue "6" @default.
• W3010597400 hasLocation W30105974001 @default.
• W3010597400 hasOpenAccess W3010597400 @default.
• W3010597400 hasPrimaryLocation W30105974001 @default.
• W3010597400 hasRelatedWork W1020051921 @default.
• W3010597400 hasRelatedWork W1946545968 @default.
• W3010597400 hasRelatedWork W1978945584 @default.
• W3010597400 hasRelatedWork W2001521748 @default.
• W3010597400 hasRelatedWork W2022544233 @default.
• W3010597400 hasRelatedWork W2165585975 @default.
• W3010597400 hasRelatedWork W2417396913 @default.
• W3010597400 hasRelatedWork W2465268546 @default.
• W3010597400 hasRelatedWork W3124002180 @default.
• W3010597400 hasRelatedWork W4289136855 @default.
• W3010597400 hasVolume "42" @default.
• W3010597400 isParatext "false" @default.
• W3010597400 isRetracted "false" @default.
• W3010597400 magId "3010597400" @default.

• next