Matches in SemOpenAlex for { <https://semopenalex.org/work/W2941342380> ?p ?o ?g. }
- W2941342380 abstract "It remains unclear to what extent neurodevelopmental disorder (NDD) risk genes retain functions into adulthood and how they may influence disease phenotypes. SYNGAP1 haploinsufficiency causes a severe NDD defined by autistic traits, cognitive impairment, and epilepsy. To determine if this gene retains therapeutically-relevant biological functions into adulthood, we performed a gene restoration technique in a mouse model for SYNGAP1 haploinsufficiency. Adult restoration of SynGAP protein improved behavioral and electrophysiological measures of memory and seizure. This included the elimination of interictal events that worsened during sleep. These events may be a biomarker for generalized cortical dysfunction in SYNGAP1 disorders because they also worsened during sleep in the human patient population. We conclude that SynGAP protein retains biological functions throughout adulthood and that non-developmental functions may contribute to disease phenotypes. Thus, treatments that target debilitating aspects of severe NDDs, such as medically-refractory seizures and cognitive impairment, may be effective in adult patients." @default.
- W2941342380 created "2019-05-03" @default.
- W2941342380 creator A5001120649 @default.
- W2941342380 creator A5004640718 @default.
- W2941342380 creator A5007893466 @default.
- W2941342380 creator A5029405465 @default.
- W2941342380 creator A5046583576 @default.
- W2941342380 creator A5063702121 @default.
- W2941342380 creator A5066711223 @default.
- W2941342380 creator A5067845999 @default.
- W2941342380 creator A5084513525 @default.
- W2941342380 creator A5087558421 @default.
- W2941342380 creator A5089001209 @default.
- W2941342380 date "2019-04-26" @default.
- W2941342380 modified "2023-10-05" @default.
- W2941342380 title "Re-expression of SynGAP protein in adulthood improves translatable measures of brain function and behavior" @default.
- W2941342380 cites W1606744897 @default.
- W2941342380 cites W1921449796 @default.
- W2941342380 cites W1951071248 @default.
- W2941342380 cites W1963557285 @default.
- W2941342380 cites W1971433884 @default.
- W2941342380 cites W1973372728 @default.
- W2941342380 cites W1975506308 @default.
- W2941342380 cites W1979856142 @default.
- W2941342380 cites W1986145335 @default.
- W2941342380 cites W1989779456 @default.
- W2941342380 cites W1989879415 @default.
- W2941342380 cites W1992530750 @default.
- W2941342380 cites W1994193742 @default.
- W2941342380 cites W1999775510 @default.
- W2941342380 cites W2007942788 @default.
- W2941342380 cites W2011535611 @default.
- W2941342380 cites W2011747578 @default.
- W2941342380 cites W2019933646 @default.
- W2941342380 cites W2023570403 @default.
- W2941342380 cites W2040268226 @default.
- W2941342380 cites W2068674192 @default.
- W2941342380 cites W2082905404 @default.
- W2941342380 cites W2087216143 @default.
- W2941342380 cites W2105350975 @default.
- W2941342380 cites W2108122441 @default.
- W2941342380 cites W2114350859 @default.
- W2941342380 cites W2118792163 @default.
- W2941342380 cites W2126206176 @default.
- W2941342380 cites W2126697435 @default.
- W2941342380 cites W2129927715 @default.
- W2941342380 cites W2132297623 @default.
- W2941342380 cites W2133198072 @default.
- W2941342380 cites W2138033133 @default.
- W2941342380 cites W2147140183 @default.
- W2941342380 cites W2157468016 @default.
- W2941342380 cites W2170397258 @default.
- W2941342380 cites W2273816628 @default.
- W2941342380 cites W2288238997 @default.
- W2941342380 cites W2294886124 @default.
- W2941342380 cites W2336680935 @default.
- W2941342380 cites W2413631243 @default.
- W2941342380 cites W2473709492 @default.
- W2941342380 cites W2545275594 @default.
- W2941342380 cites W2581649032 @default.
- W2941342380 cites W2588230916 @default.
- W2941342380 cites W2592063610 @default.
- W2941342380 cites W2592509339 @default.
- W2941342380 cites W2767009610 @default.
- W2941342380 cites W2788817175 @default.
- W2941342380 cites W2790710383 @default.
- W2941342380 cites W2900232853 @default.
- W2941342380 cites W2904696555 @default.
- W2941342380 cites W3105510776 @default.
- W2941342380 cites W4291015094 @default.
- W2941342380 doi "https://doi.org/10.7554/elife.46752" @default.
- W2941342380 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6504227" @default.
- W2941342380 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31025938" @default.
- W2941342380 hasPublicationYear "2019" @default.
- W2941342380 type Work @default.
- W2941342380 sameAs 2941342380 @default.
- W2941342380 citedByCount "48" @default.
- W2941342380 countsByYear W29413423802019 @default.
- W2941342380 countsByYear W29413423802020 @default.
- W2941342380 countsByYear W29413423802021 @default.
- W2941342380 countsByYear W29413423802022 @default.
- W2941342380 countsByYear W29413423802023 @default.
- W2941342380 crossrefType "journal-article" @default.
- W2941342380 hasAuthorship W2941342380A5001120649 @default.
- W2941342380 hasAuthorship W2941342380A5004640718 @default.
- W2941342380 hasAuthorship W2941342380A5007893466 @default.
- W2941342380 hasAuthorship W2941342380A5029405465 @default.
- W2941342380 hasAuthorship W2941342380A5046583576 @default.
- W2941342380 hasAuthorship W2941342380A5063702121 @default.
- W2941342380 hasAuthorship W2941342380A5066711223 @default.
- W2941342380 hasAuthorship W2941342380A5067845999 @default.
- W2941342380 hasAuthorship W2941342380A5084513525 @default.
- W2941342380 hasAuthorship W2941342380A5087558421 @default.
- W2941342380 hasAuthorship W2941342380A5089001209 @default.
- W2941342380 hasBestOaLocation W29413423801 @default.
- W2941342380 hasConcept C104317684 @default.
- W2941342380 hasConcept C118552586 @default.
- W2941342380 hasConcept C126322002 @default.
- W2941342380 hasConcept C127716648 @default.
- W2941342380 hasConcept C15744967 @default.