FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3215050216> ?p ?o ?g. }

• W3215050216 endingPage "352" @default.
• W3215050216 startingPage "343" @default.
• W3215050216 abstract "Developmental and epileptic encephalopathy (DEE) is characterized by refractory seizures, developmental delay or intellectual disability, which may be caused by gene mutation. In this study, we explored the clinical phenotype and long-term outcome in children with genetic early-infantile-onset DEEs.Next-generation sequencing was performed on 470 patients diagnosed with early-infantile-onset DEE between 2010 and 2020. The genetic variation in all cases was classified and evaluated to identify pathogenic variants. The identified variants were further verified by Sanger sequencing.A total of 118 and 10 patients were found to have putative disease-causing gene mutations and copy number variations, respectively. SCN1A mutations were detected in 38 patients (38/118, 32.2%), representing the largest proportion. In patients with early-infantile-onset DEE with burst suppression, KCNQ2 mutation was found in six patients, and the remaining mutations were reported in SCN2A (n=2) and STXBP1 (n=1). Seven patients with dyskinesia were described. In patients with non-syndromic genetic early-infantile-onset DEEs, we detected possible rare pathogenic variants in SETBP1, DPYD, CSNK2B, and H3F3A. With regards to inheritance pattern, de novo heterozygous mutations accounted for the majority (104/118; 88.1%). Three patients with SMC1A mutations responded well to ketogenic diet add-on therapy. Addition of valproic acid showed good therapeutic effects against KCNB1 and PACS2 encephalopathy.We detected four possible rare pathogenic gene variants as non-syndromic genetic causes of early-infantile-onset DEEs. Although early-infantile-onset DEEs responded poorly to antiseizure medication treatment, we found that specific antiseizure medications showed good therapeutic effects in some patients with early-infantile-onset DEEs harbouring gene variants." @default.
• W3215050216 created "2021-12-06" @default.
• W3215050216 creator A5021352247 @default.
• W3215050216 creator A5033686113 @default.
• W3215050216 creator A5043069697 @default.
• W3215050216 creator A5066983840 @default.
• W3215050216 creator A5073082494 @default.
• W3215050216 date "2022-04-01" @default.
• W3215050216 modified "2023-10-17" @default.
• W3215050216 title "Phenotypic spectrum and long‐term outcome of children with genetic early‐infantile‐onset developmental and epileptic encephalopathy" @default.
• W3215050216 cites W1512610635 @default.
• W3215050216 cites W1922805558 @default.
• W3215050216 cites W1965239343 @default.
• W3215050216 cites W1975004069 @default.
• W3215050216 cites W1978437325 @default.
• W3215050216 cites W1980050623 @default.
• W3215050216 cites W2002057703 @default.
• W3215050216 cites W2009906823 @default.
• W3215050216 cites W2125634009 @default.
• W3215050216 cites W2180715364 @default.
• W3215050216 cites W2195214386 @default.
• W3215050216 cites W2209781982 @default.
• W3215050216 cites W2239869719 @default.
• W3215050216 cites W2538172556 @default.
• W3215050216 cites W2550219759 @default.
• W3215050216 cites W2577719614 @default.
• W3215050216 cites W2581021936 @default.
• W3215050216 cites W2587247875 @default.
• W3215050216 cites W2587345283 @default.
• W3215050216 cites W2604495421 @default.
• W3215050216 cites W2618031525 @default.
• W3215050216 cites W2750553168 @default.
• W3215050216 cites W2802657923 @default.
• W3215050216 cites W2807496867 @default.
• W3215050216 cites W2910842547 @default.
• W3215050216 cites W2930373933 @default.
• W3215050216 cites W2941415071 @default.
• W3215050216 cites W2961503558 @default.
• W3215050216 cites W2970633802 @default.
• W3215050216 cites W2972811737 @default.
• W3215050216 cites W3013207556 @default.
• W3215050216 cites W3013775038 @default.
• W3215050216 cites W3017327978 @default.
• W3215050216 doi "https://doi.org/10.1684/epd.2021.1394" @default.
• W3215050216 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34859793" @default.
• W3215050216 hasPublicationYear "2022" @default.
• W3215050216 type Work @default.
• W3215050216 sameAs 3215050216 @default.
• W3215050216 citedByCount "6" @default.
• W3215050216 countsByYear W32150502162022 @default.
• W3215050216 countsByYear W32150502162023 @default.
• W3215050216 crossrefType "journal-article" @default.
• W3215050216 hasAuthorship W3215050216A5021352247 @default.
• W3215050216 hasAuthorship W3215050216A5033686113 @default.
• W3215050216 hasAuthorship W3215050216A5043069697 @default.
• W3215050216 hasAuthorship W3215050216A5066983840 @default.
• W3215050216 hasAuthorship W3215050216A5073082494 @default.
• W3215050216 hasConcept C104317684 @default.
• W3215050216 hasConcept C118552586 @default.
• W3215050216 hasConcept C12125453 @default.
• W3215050216 hasConcept C126322002 @default.
• W3215050216 hasConcept C187212893 @default.
• W3215050216 hasConcept C2777767895 @default.
• W3215050216 hasConcept C2778186239 @default.
• W3215050216 hasConcept C2778587478 @default.
• W3215050216 hasConcept C2778621155 @default.
• W3215050216 hasConcept C2779134260 @default.
• W3215050216 hasConcept C2910479173 @default.
• W3215050216 hasConcept C501734568 @default.
• W3215050216 hasConcept C54355233 @default.
• W3215050216 hasConcept C71924100 @default.
• W3215050216 hasConcept C76818968 @default.
• W3215050216 hasConcept C86803240 @default.
• W3215050216 hasConceptScore W3215050216C104317684 @default.
• W3215050216 hasConceptScore W3215050216C118552586 @default.
• W3215050216 hasConceptScore W3215050216C12125453 @default.
• W3215050216 hasConceptScore W3215050216C126322002 @default.
• W3215050216 hasConceptScore W3215050216C187212893 @default.
• W3215050216 hasConceptScore W3215050216C2777767895 @default.
• W3215050216 hasConceptScore W3215050216C2778186239 @default.
• W3215050216 hasConceptScore W3215050216C2778587478 @default.
• W3215050216 hasConceptScore W3215050216C2778621155 @default.
• W3215050216 hasConceptScore W3215050216C2779134260 @default.
• W3215050216 hasConceptScore W3215050216C2910479173 @default.
• W3215050216 hasConceptScore W3215050216C501734568 @default.
• W3215050216 hasConceptScore W3215050216C54355233 @default.
• W3215050216 hasConceptScore W3215050216C71924100 @default.
• W3215050216 hasConceptScore W3215050216C76818968 @default.
• W3215050216 hasConceptScore W3215050216C86803240 @default.
• W3215050216 hasIssue "2" @default.
• W3215050216 hasLocation W32150502161 @default.
• W3215050216 hasLocation W32150502162 @default.
• W3215050216 hasOpenAccess W3215050216 @default.
• W3215050216 hasPrimaryLocation W32150502161 @default.
• W3215050216 hasRelatedWork W2090023121 @default.
• W3215050216 hasRelatedWork W2413049147 @default.
• W3215050216 hasRelatedWork W2991268406 @default.
• W3215050216 hasRelatedWork W2993282173 @default.

• next