Large genetic study of epilepsy reveals the genes that increase our risk

Embargoed until: Publicly released: 2024-10-03 19:00

Australia; International; NSW; VIC

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International scientists, including Australians, investigated the genetics of nearly 21,000 people with epilepsy, and found seven individual genes, three gene sets and four gene variants that increase the risk of developing the disease. The team looked at exomes in the patients' DNA, which are the parts of genes that contain the code for building proteins in the body. The genes identified play roles in brain signaling and brain cell excitability, the authors say. They've made their data available via an interactive browser, which they hope will help in diagnosing the disease.

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Journal/
conference: Nature Neuroscience

Research:Paper

Organisation/s: The University of Melbourne, Monash University, WEHI, The University of Sydney, Broad Institute of MIT and Harvard, USA

Funder: This work is part of the Centers for Common Disease Genomics (CCDG) program, funded by the National Human Genome Research Institute (NHGRI) and the National Heart, Lung, and Blood Institute. CCDG-funded Epi25 research activities at the Broad Institute, including genomic data generation in the Broad Genomics Platform, were supported by NHGRI grant UM1 HG008895 (PIs: E.S.L., S.B.G., M.J.D. and S.K.). Genome Sequencing Program efforts were also supported by NHGRI grant U01HG009088. A supplemental grant for Epi25 phenotyping was supported by ‘Epi25 Clinical Phenotyping R03’, National Institutes of Health R03NS108145 (PIs: D.H.L. and S.F.B.). Additional support for analysis was provided by National Institute of Neurological Disorders and Stroke grant R01NS106104 (PI: C.C.).

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