FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4220737306> ?p ?o ?g. }

• W4220737306 endingPage "106907" @default.
• W4220737306 startingPage "106907" @default.
• W4220737306 abstract "IQSEC2 is an X-linked gene localized to the post synaptic density encoding a GTP exchange factor that regulates NMDA mediated changes in synaptic function. Mutations in the IQSEC2 gene are associated with drug resistant epilepsy, intellectual disability and autism. Precision medicine based therapeutics to treat IQSEC2 associated epilepsy requires the development and characterization of mutation specific animal models. To date no EEG recordings have been presented for any mouse model of any IQSEC2 mutation showing seizures. In this study we characterize the seizures and EEG brain wave abnormalities present in mice with a A350V IQSEC2 missense mutation that is associated with drug resistant epilepsy in man. We show that seizures are associated with a greater than 40% mortality rate in male mice and occur exclusively from post-natal day 16-20. EEG recordings of mouse pups during this window demonstrate seizures and the presence of spikes with a marked increase in delta waves. EEG recordings in adult male mice have persistent excessive slow frequency activity and spikes, but seizures were not recorded. RNAseq analysis of the hippocampi of mice prior to the development of seizures demonstrated marked abnormalities in canonical pathways involved in synaptogenesis and dendritic maturation with the most prominently dysregulated gene being that for TRH suggesting a potential target for therapy given the previous demonstration of TRH to decrease seizures in several forms of drug resistant epilepsy." @default.
• W4220737306 created "2022-04-03" @default.
• W4220737306 creator A5015036432 @default.
• W4220737306 creator A5022873871 @default.
• W4220737306 creator A5024426491 @default.
• W4220737306 creator A5042137123 @default.
• W4220737306 creator A5044234123 @default.
• W4220737306 creator A5049642046 @default.
• W4220737306 creator A5050677798 @default.
• W4220737306 creator A5052055830 @default.
• W4220737306 creator A5070651790 @default.
• W4220737306 creator A5071023544 @default.
• W4220737306 creator A5077738410 @default.
• W4220737306 date "2022-05-01" @default.
• W4220737306 modified "2023-10-18" @default.
• W4220737306 title "Characterization of spontaneous seizures and EEG abnormalities in a mouse model of the human A350V IQSEC2 mutation and identification of a possible target for precision medicine based therapy" @default.
• W4220737306 cites W1967390626 @default.
• W4220737306 cites W1973541601 @default.
• W4220737306 cites W2018536775 @default.
• W4220737306 cites W2024655562 @default.
• W4220737306 cites W2040801017 @default.
• W4220737306 cites W2043127785 @default.
• W4220737306 cites W2052386927 @default.
• W4220737306 cites W2054545874 @default.
• W4220737306 cites W205982821 @default.
• W4220737306 cites W2061276796 @default.
• W4220737306 cites W2074244952 @default.
• W4220737306 cites W2315178152 @default.
• W4220737306 cites W2524115679 @default.
• W4220737306 cites W2591327081 @default.
• W4220737306 cites W2747477247 @default.
• W4220737306 cites W2790548666 @default.
• W4220737306 cites W2891792721 @default.
• W4220737306 cites W2896134556 @default.
• W4220737306 cites W2912882561 @default.
• W4220737306 cites W2949084353 @default.
• W4220737306 cites W2949591853 @default.
• W4220737306 cites W2969288593 @default.
• W4220737306 cites W2977382651 @default.
• W4220737306 cites W3003005029 @default.
• W4220737306 cites W3200672710 @default.
• W4220737306 cites W97340584 @default.
• W4220737306 doi "https://doi.org/10.1016/j.eplepsyres.2022.106907" @default.
• W4220737306 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35344748" @default.
• W4220737306 hasPublicationYear "2022" @default.
• W4220737306 type Work @default.
• W4220737306 citedByCount "3" @default.
• W4220737306 countsByYear W42207373062023 @default.
• W4220737306 crossrefType "journal-article" @default.
• W4220737306 hasAuthorship W4220737306A5015036432 @default.
• W4220737306 hasAuthorship W4220737306A5022873871 @default.
• W4220737306 hasAuthorship W4220737306A5024426491 @default.
• W4220737306 hasAuthorship W4220737306A5042137123 @default.
• W4220737306 hasAuthorship W4220737306A5044234123 @default.
• W4220737306 hasAuthorship W4220737306A5049642046 @default.
• W4220737306 hasAuthorship W4220737306A5050677798 @default.
• W4220737306 hasAuthorship W4220737306A5052055830 @default.
• W4220737306 hasAuthorship W4220737306A5070651790 @default.
• W4220737306 hasAuthorship W4220737306A5071023544 @default.
• W4220737306 hasAuthorship W4220737306A5077738410 @default.
• W4220737306 hasBestOaLocation W42207373061 @default.
• W4220737306 hasConcept C104317684 @default.
• W4220737306 hasConcept C118552586 @default.
• W4220737306 hasConcept C15744967 @default.
• W4220737306 hasConcept C16568411 @default.
• W4220737306 hasConcept C169760540 @default.
• W4220737306 hasConcept C205778803 @default.
• W4220737306 hasConcept C2778186239 @default.
• W4220737306 hasConcept C501734568 @default.
• W4220737306 hasConcept C522805319 @default.
• W4220737306 hasConcept C54355233 @default.
• W4220737306 hasConcept C65232495 @default.
• W4220737306 hasConcept C71924100 @default.
• W4220737306 hasConcept C75563809 @default.
• W4220737306 hasConcept C86803240 @default.
• W4220737306 hasConceptScore W4220737306C104317684 @default.
• W4220737306 hasConceptScore W4220737306C118552586 @default.
• W4220737306 hasConceptScore W4220737306C15744967 @default.
• W4220737306 hasConceptScore W4220737306C16568411 @default.
• W4220737306 hasConceptScore W4220737306C169760540 @default.
• W4220737306 hasConceptScore W4220737306C205778803 @default.
• W4220737306 hasConceptScore W4220737306C2778186239 @default.
• W4220737306 hasConceptScore W4220737306C501734568 @default.
• W4220737306 hasConceptScore W4220737306C522805319 @default.
• W4220737306 hasConceptScore W4220737306C54355233 @default.
• W4220737306 hasConceptScore W4220737306C65232495 @default.
• W4220737306 hasConceptScore W4220737306C71924100 @default.
• W4220737306 hasConceptScore W4220737306C75563809 @default.
• W4220737306 hasConceptScore W4220737306C86803240 @default.
• W4220737306 hasLocation W42207373061 @default.
• W4220737306 hasLocation W42207373062 @default.
• W4220737306 hasOpenAccess W4220737306 @default.
• W4220737306 hasPrimaryLocation W42207373061 @default.
• W4220737306 hasRelatedWork W1481790771 @default.
• W4220737306 hasRelatedWork W2000292371 @default.
• W4220737306 hasRelatedWork W2002272356 @default.
• W4220737306 hasRelatedWork W2047498240 @default.
• W4220737306 hasRelatedWork W2419209382 @default.

• next