Journal article
Genes4Epilepsy: An epilepsy gene resource
KL Oliver, IE Scheffer, MF Bennett, BE Grinton, M Bahlo, SF Berkovic
Epilepsia | WILEY | Published : 2023
DOI: 10.1111/epi.17547
Open access
Abstract
Objective: “How many epilepsy genes are there?” is a frequently asked question. We sought to (1) provide a curated list of genes that cause monogenic epilepsies, and (2) compare and contrast epilepsy gene panels from multiple sources. Methods: We compared genes included on the epilepsy panels (as of July 29, 2022) of four clinical diagnostic providers: Invitae, GeneDx, Fulgent Genetics, and Blueprint Genetics; and two research resources: PanelApp Australia and ClinGen. A master list of all unique genes was supplemented by additional genes identified via PubMed searches up until August 15, 2022, using the search terms “genetics” AND/OR “epilepsy” AND/OR “seizures”. Evidence supporting a monog..
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Awarded by UCB Pharma
Funding Acknowledgements
The authors gratefully acknowledge support provided by the Australian National Health and Medical Research Council (NHMRC) Centre for Research Excellence Grant [GNT2006841] and NHMRC Synergy Grant [GNT2010562]. IES is also supported by an NHMRC Senior Investigator Grant [GNT1172897], MB by an NHMRC Senior Investigator Grant [APP1195236], and SFB by an NHMRC Senior Investigator Grant [APP196637]. KLO is supported by the Australian Commonwealth Government and the University of Melbourne Australian Government Research Training Program Scholarship [APP533086]. This work was also supported by the Victorian Government's Operational Infrastructure Support Program, the NHMRC Independent Research Institute Infrastructure Support Scheme (IRIISS).