Clinical signatures of genetic epilepsy precede diagnosis in electronic medical records of 32,000 individuals
Peter D. Galer, Shridhar Parthasarathy, Julie Xian, Jillian L. McKee, Sarah McKeown Ruggiero, Shiva Ganesan, Michael C. Kaufman, Stacey R. Cohen, Scott Haag, Chen Chen, William K.S. Ojemann, Daniel Kim, Olivia Wilmarth, Priya Vaidiswaran, Casey Sederman, , Ingo Helbig
This study identifies clinical features preceding genetic epilepsy diagnosis in EMR data from 32,000 individuals, showing early signs can inform earlier treatment.
Genetics in Medicine · Jul 14, 2024Peer-reviewedGenetic & Genomic Medicine