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DFG-funded collaboration with the Cologne Center for Genomics, Cleveland Clinic and University of Texas revealed new genes in lesional focal epilepsy

DFG-funded collaboration with the Cologne Center for Genomics, Cleveland Clinic and University of Texas revealed new genes in lesional focal epilepsy

Nature Communications 2024 Nov 30;15(1):10429

Brain somatic variants in DYRK1A and EGFR were discovered to associate with lesional focal epilepsy

We conducted a somatic variant enrichment mega-analysis in brain tissue from 1386 individuals who underwent epilepsy surgery. Here we confirm 4 known associations (i.e. BRAF, SLC35A2, MTOR, PTPN11), support 8 associations without prior statistical support (i.e. FGFR1, PIK3CA, AKT3, NF1, PTEN, RHEB, KRAS, NRAS), and identify novel associations for 2 genes, DYRK1A and EGFR. Both novel genes show specific histopathological phenotypes, interact with established lesional focal epilepsy genes and pathways, and may represent promising candidates as biomarkers and potentially druggable targets. Please read further in Boßelmann and coworkers, Nature Com. 2024 Nov 30;15(1):10429.