FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3048762461> ?p ?o ?g. }

• W3048762461 endingPage "481" @default.
• W3048762461 startingPage "476" @default.
• W3048762461 abstract "Abstract We report a child who developed myoclonic status epilepticus (MSE) at four months of age, associated with rhythmic high‐amplitude delta and superimposed (poly) spikes (RHADS), harbouring a GABRB2 (β2 subunit of the GABA A receptor) variant. The patient was treated under a presumptive diagnosis of neonatal‐ons et al pers syndrome (AS) and underwent targeted sequence analysis for POLG1 (polymerase gamma 1) and subsequent whole‐exome sequence analysis (WES). The patient is currently a 10‐year, eight‐month‐old boy, suffering from daily MSE associated with RHADS and severe global developmental delay from early infancy. Although POLG1 mutation was negative, WES revealed a de novo missense variant of GABRB2 (NM_021911.2: c.784G>T, p.[Val262Phe]). Based on a review of case series with GABRB2 variants, we found that five of the 18 cases shared the clinical and EEG characteristics associated with our patient. In summary, this de novo GABRB2 variant was associated with an AS phenotype, characterized by treatment‐resistant MSE and RHADS, and may represent an alternative aetiology for neonatal‐onset AS without POLG1 mutation [ Published with video sequence ]." @default.
• W3048762461 created "2020-08-18" @default.
• W3048762461 creator A5005062788 @default.
• W3048762461 creator A5007061666 @default.
• W3048762461 creator A5028683428 @default.
• W3048762461 creator A5033274796 @default.
• W3048762461 creator A5054994997 @default.
• W3048762461 creator A5058999827 @default.
• W3048762461 creator A5080876994 @default.
• W3048762461 creator A5082917975 @default.
• W3048762461 creator A5085467135 @default.
• W3048762461 creator A5088769616 @default.
• W3048762461 date "2020-08-01" @default.
• W3048762461 modified "2023-10-16" @default.
• W3048762461 title "A de novo GABRB2 variant associated with myoclonic status epilepticus and rhythmic high-amplitude delta with superimposed (poly) spikes (RHADS)" @default.
• W3048762461 cites W2007054236 @default.
• W3048762461 cites W2018728641 @default.
• W3048762461 cites W2051978340 @default.
• W3048762461 cites W2060664378 @default.
• W3048762461 cites W2070188240 @default.
• W3048762461 cites W2076224048 @default.
• W3048762461 cites W2145786097 @default.
• W3048762461 cites W2528146340 @default.
• W3048762461 cites W2543880784 @default.
• W3048762461 cites W2766662494 @default.
• W3048762461 cites W2883808148 @default.
• W3048762461 cites W2885146557 @default.
• W3048762461 cites W2910715775 @default.
• W3048762461 cites W4214899756 @default.
• W3048762461 doi "https://doi.org/10.1684/epd.2020.1183" @default.
• W3048762461 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32759093" @default.
• W3048762461 hasPublicationYear "2020" @default.
• W3048762461 type Work @default.
• W3048762461 sameAs 3048762461 @default.
• W3048762461 citedByCount "3" @default.
• W3048762461 countsByYear W30487624612020 @default.
• W3048762461 countsByYear W30487624612021 @default.
• W3048762461 countsByYear W30487624612022 @default.
• W3048762461 crossrefType "journal-article" @default.
• W3048762461 hasAuthorship W3048762461A5005062788 @default.
• W3048762461 hasAuthorship W3048762461A5007061666 @default.
• W3048762461 hasAuthorship W3048762461A5028683428 @default.
• W3048762461 hasAuthorship W3048762461A5033274796 @default.
• W3048762461 hasAuthorship W3048762461A5054994997 @default.
• W3048762461 hasAuthorship W3048762461A5058999827 @default.
• W3048762461 hasAuthorship W3048762461A5080876994 @default.
• W3048762461 hasAuthorship W3048762461A5082917975 @default.
• W3048762461 hasAuthorship W3048762461A5085467135 @default.
• W3048762461 hasAuthorship W3048762461A5088769616 @default.
• W3048762461 hasBestOaLocation W30487624611 @default.
• W3048762461 hasConcept C104317684 @default.
• W3048762461 hasConcept C126322002 @default.
• W3048762461 hasConcept C127716648 @default.
• W3048762461 hasConcept C137627325 @default.
• W3048762461 hasConcept C16671776 @default.
• W3048762461 hasConcept C169760540 @default.
• W3048762461 hasConcept C187212893 @default.
• W3048762461 hasConcept C2777341932 @default.
• W3048762461 hasConcept C2778186239 @default.
• W3048762461 hasConcept C501734568 @default.
• W3048762461 hasConcept C54355233 @default.
• W3048762461 hasConcept C60644358 @default.
• W3048762461 hasConcept C71924100 @default.
• W3048762461 hasConcept C75563809 @default.
• W3048762461 hasConcept C86803240 @default.
• W3048762461 hasConceptScore W3048762461C104317684 @default.
• W3048762461 hasConceptScore W3048762461C126322002 @default.
• W3048762461 hasConceptScore W3048762461C127716648 @default.
• W3048762461 hasConceptScore W3048762461C137627325 @default.
• W3048762461 hasConceptScore W3048762461C16671776 @default.
• W3048762461 hasConceptScore W3048762461C169760540 @default.
• W3048762461 hasConceptScore W3048762461C187212893 @default.
• W3048762461 hasConceptScore W3048762461C2777341932 @default.
• W3048762461 hasConceptScore W3048762461C2778186239 @default.
• W3048762461 hasConceptScore W3048762461C501734568 @default.
• W3048762461 hasConceptScore W3048762461C54355233 @default.
• W3048762461 hasConceptScore W3048762461C60644358 @default.
• W3048762461 hasConceptScore W3048762461C71924100 @default.
• W3048762461 hasConceptScore W3048762461C75563809 @default.
• W3048762461 hasConceptScore W3048762461C86803240 @default.
• W3048762461 hasIssue "4" @default.
• W3048762461 hasLocation W30487624611 @default.
• W3048762461 hasOpenAccess W3048762461 @default.
• W3048762461 hasPrimaryLocation W30487624611 @default.
• W3048762461 hasRelatedWork W2013957148 @default.
• W3048762461 hasRelatedWork W2041831812 @default.
• W3048762461 hasRelatedWork W2050451211 @default.
• W3048762461 hasRelatedWork W2159173718 @default.
• W3048762461 hasRelatedWork W2198170080 @default.
• W3048762461 hasRelatedWork W2625779927 @default.
• W3048762461 hasRelatedWork W2795214204 @default.
• W3048762461 hasRelatedWork W3024306633 @default.
• W3048762461 hasRelatedWork W3200785218 @default.
• W3048762461 hasRelatedWork W4220748796 @default.
• W3048762461 hasVolume "22" @default.
• W3048762461 isParatext "false" @default.
• W3048762461 isRetracted "false" @default.
• W3048762461 magId "3048762461" @default.

• next