Journal article

Harnessing Gene Expression Networks to Prioritize Candidate Epileptic Encephalopathy Genes

Karen L Oliver, Vesna Lukic, Natalie P Thorne, Samuel F Berkovic, Ingrid E Scheffer, Melanie Bahlo



We apply a novel gene expression network analysis to a cohort of 182 recently reported candidate Epileptic Encephalopathy genes to identify those most likely to be true Epileptic Encephalopathy genes. These candidate genes were identified as having single variants of likely pathogenic significance discovered in a large-scale massively parallel sequencing study. Candidate Epileptic Encephalopathy genes were prioritized according to their co-expression with 29 known Epileptic Encephalopathy genes. We utilized developing brain and adult brain gene expression data from the Allen Human Brain Atlas (AHBA) and compared this to data from Celsius: a large, heterogeneous gene expression data warehouse..

View full abstract


Awarded by Australian Research Council Future Fellowship

Awarded by National Health and Medical Research Council of Australia Program Grant

Awarded by Practitioner Fellowship

Funding Acknowledgements

MB, NT and VL were supported by Victorian State Government Operational Infrastructure Support and Australian Government NHMRC IRIISS funding to their institute. MB was also supported by an Australian Research Council Future Fellowship (FT100100764). SFB and IES were supported by a National Health and Medical Research Council of Australia Program Grant 628952 and IES was supported by Practitioner Fellowship 1006110. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.