Time to move beyond genetics towards biomedical data-driven translational genomic research in severe paediatric epilepsies
作者: Andreas BrunklausCostin LeuMarie GrammEduardo Pérez-PalmaSumaiya IqbalDennis Lal
作者单位: 1The Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, G51 4TF, UK
2School of Medicine, University of Glasgow, Glasgow, G12 8QQ, UK
3Genomic Medicine Institute, Lerner Research Institute Cleveland Clinic, Cleveland, OH, 44195, USA
4Cologne Center for Genomics (CCG), University of Cologne, 50931, Cologne, Germany
5Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA
6Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA
7Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH, 44195, USA
刊名: European Journal of Paediatric Neurology, 2020, Vol.24 , pp.35-39
来源数据库: Elsevier Journal
DOI: 10.1016/j.ejpn.2019.12.001
关键词: GeneticsEpilepsyNeurodevelopmental disordersTranslational genomic research
原始语种摘要: Abstract(#br)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...
全文获取路径: Elsevier  (合作)
影响因子:1.982 (2012)

  • genomic 染色体组的
  • translational 平移的
  • paediatric 小儿科的
  • biomedical 生物医学
  • genetics 遗传学
  • driven 从动的
  • research 
  • towards 朝向
  • beyond 在...那边
  • severe 严滥