Matches in SemOpenAlex for { <https://semopenalex.org/work/W2994893222> ?p ?o ?g. }
- W2994893222 abstract "By accumulating ever greater amounts of genomic data, scientists have identified >100 genes associated with Mendelian forms of epilepsy and neurodevelopmental disorders with seizures. For most of the identified genes a wide range of genetic variants have been identified and affected patients are clinically heterogeneous. It is not clear to which degree the clinical heterogeneity can be attributed to the disease causing variant alone. We need to improve our current understanding of biophysical effects of variants on protein function and the role of polygenic background in modifying the clinical representation. In addition, longitudinal clinical data need to be recorded using standardized methods and shared across research centers to build large virtual cohorts for each single gene disorder. Without large, comprehensive, longitudinal datasets, studying the interplay of environmental factors and genetic factors will be challenging. As a community, we must work together to set the foundation for biorepositories and the collection and sharing of 'big data' in order to allow genetic-phenotypic characterization of the epilepsies and to fully utilize the potential for drug discovery, and patient-specific tailored management." @default.
- W2994893222 created "2019-12-26" @default.
- W2994893222 creator A5007206766 @default.
- W2994893222 creator A5010212767 @default.
- W2994893222 creator A5016850814 @default.
- W2994893222 creator A5021769497 @default.
- W2994893222 creator A5050491303 @default.
- W2994893222 creator A5089854537 @default.
- W2994893222 date "2020-01-01" @default.
- W2994893222 modified "2023-09-27" @default.
- W2994893222 title "Time to move beyond genetics towards biomedical data-driven translational genomic research in severe paediatric epilepsies" @default.
- W2994893222 cites W1523420748 @default.
- W2994893222 cites W1839682376 @default.
- W2994893222 cites W1937033430 @default.
- W2994893222 cites W1958673254 @default.
- W2994893222 cites W1993890839 @default.
- W2994893222 cites W2051978340 @default.
- W2994893222 cites W2088697121 @default.
- W2994893222 cites W2124751431 @default.
- W2994893222 cites W2130479394 @default.
- W2994893222 cites W2133298085 @default.
- W2994893222 cites W2140968331 @default.
- W2994893222 cites W2169767637 @default.
- W2994893222 cites W2193207784 @default.
- W2994893222 cites W2256016639 @default.
- W2994893222 cites W2418807401 @default.
- W2994893222 cites W2499653501 @default.
- W2994893222 cites W2592509339 @default.
- W2994893222 cites W2616744713 @default.
- W2994893222 cites W2790501791 @default.
- W2994893222 cites W2800241104 @default.
- W2994893222 cites W2800285111 @default.
- W2994893222 cites W2800368483 @default.
- W2994893222 cites W2809226260 @default.
- W2994893222 cites W2895781865 @default.
- W2994893222 cites W2897806271 @default.
- W2994893222 cites W2904891280 @default.
- W2994893222 cites W2913672248 @default.
- W2994893222 cites W2923757114 @default.
- W2994893222 cites W2937191857 @default.
- W2994893222 cites W2945096435 @default.
- W2994893222 cites W2952988698 @default.
- W2994893222 cites W2955500742 @default.
- W2994893222 cites W2960399794 @default.
- W2994893222 cites W2961503558 @default.
- W2994893222 doi "https://doi.org/10.1016/j.ejpn.2019.12.001" @default.
- W2994893222 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31924506" @default.
- W2994893222 hasPublicationYear "2020" @default.
- W2994893222 type Work @default.
- W2994893222 sameAs 2994893222 @default.
- W2994893222 citedByCount "1" @default.
- W2994893222 countsByYear W29948932222021 @default.
- W2994893222 crossrefType "journal-article" @default.
- W2994893222 hasAuthorship W2994893222A5007206766 @default.
- W2994893222 hasAuthorship W2994893222A5010212767 @default.
- W2994893222 hasAuthorship W2994893222A5016850814 @default.
- W2994893222 hasAuthorship W2994893222A5021769497 @default.
- W2994893222 hasAuthorship W2994893222A5050491303 @default.
- W2994893222 hasAuthorship W2994893222A5089854537 @default.
- W2994893222 hasConcept C104317684 @default.
- W2994893222 hasConcept C127716648 @default.
- W2994893222 hasConcept C128544194 @default.
- W2994893222 hasConcept C141231307 @default.
- W2994893222 hasConcept C142724271 @default.
- W2994893222 hasConcept C150903083 @default.
- W2994893222 hasConcept C175783326 @default.
- W2994893222 hasConcept C189206191 @default.
- W2994893222 hasConcept C2522767166 @default.
- W2994893222 hasConcept C2779134260 @default.
- W2994893222 hasConcept C2908647359 @default.
- W2994893222 hasConcept C2993807623 @default.
- W2994893222 hasConcept C41008148 @default.
- W2994893222 hasConcept C54355233 @default.
- W2994893222 hasConcept C64618202 @default.
- W2994893222 hasConcept C70721500 @default.
- W2994893222 hasConcept C71924100 @default.
- W2994893222 hasConcept C86803240 @default.
- W2994893222 hasConcept C99454951 @default.
- W2994893222 hasConceptScore W2994893222C104317684 @default.
- W2994893222 hasConceptScore W2994893222C127716648 @default.
- W2994893222 hasConceptScore W2994893222C128544194 @default.
- W2994893222 hasConceptScore W2994893222C141231307 @default.
- W2994893222 hasConceptScore W2994893222C142724271 @default.
- W2994893222 hasConceptScore W2994893222C150903083 @default.
- W2994893222 hasConceptScore W2994893222C175783326 @default.
- W2994893222 hasConceptScore W2994893222C189206191 @default.
- W2994893222 hasConceptScore W2994893222C2522767166 @default.
- W2994893222 hasConceptScore W2994893222C2779134260 @default.
- W2994893222 hasConceptScore W2994893222C2908647359 @default.
- W2994893222 hasConceptScore W2994893222C2993807623 @default.
- W2994893222 hasConceptScore W2994893222C41008148 @default.
- W2994893222 hasConceptScore W2994893222C54355233 @default.
- W2994893222 hasConceptScore W2994893222C64618202 @default.
- W2994893222 hasConceptScore W2994893222C70721500 @default.
- W2994893222 hasConceptScore W2994893222C71924100 @default.
- W2994893222 hasConceptScore W2994893222C86803240 @default.
- W2994893222 hasConceptScore W2994893222C99454951 @default.
- W2994893222 hasLocation W29948932221 @default.
- W2994893222 hasLocation W29948932222 @default.
- W2994893222 hasOpenAccess W2994893222 @default.