{"doi":"10.1101/2023.02.22.23285841","title":"Glioma genetic profiles associated with electrophysiologic hyperexcitability","abstract":"Distinct genetic alterations determine glioma aggressiveness, however the diversity of somatic mutations contributing to peritumoral hyperexcitability and seizures is uncertain. In a large cohort of patients with sequenced gliomas (n=1716), we used discriminant analysis models to identify somatic mutation variants associated with electrographic hyperexcitability in a subset with continuous EEG recording (n=206). Overall tumor mutational burdens were similar between patients with and without hyperexcitability. A cross-validated model trained exclusively on somatic mutations classified the presence or absence of hyperexcitability with an overall accuracy of 70.9%, and improved estimates of hyperexcitability and anti-seizure medication failure in multivariate analysis incorporating traditional demographic factors and tumor molecular classifications. Somatic mutation variants of interest were also over-represented in patients with hyperexcitability compared to internal and external reference cohorts. These findings implicate diverse mutations in cancer genes associated with the development of hyperexcitability and response to treatment.","journal":"medRxiv","year":2023,"id":395877,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":2,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9502,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2023-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1078082,"name":"Maria Kristina Dorotan","orcid":"0000-0002-0073-4982","position":1,"is_corresponding":false},{"id":1171647,"name":"Hia S. Ghosh","orcid":null,"position":2,"is_corresponding":false},{"id":475498,"name":"Emily Lapinskas","orcid":"0000-0001-9860-3544","position":3,"is_corresponding":false},{"id":842663,"name":"Jayne Vogelzang","orcid":"0000-0001-8249-3600","position":4,"is_corresponding":false},{"id":25295,"name":"David A. Reardon","orcid":"0000-0001-6674-0157","position":5,"is_corresponding":false},{"id":1412,"name":"Keith L. Ligon","orcid":"0000-0002-7733-600X","position":6,"is_corresponding":false},{"id":255214,"name":"Wenya Linda Bi","orcid":"0000-0002-4635-0247","position":7,"is_corresponding":false},{"id":384915,"name":"Stelios M. Smirnakis","orcid":"0000-0002-1929-2811","position":8,"is_corresponding":false},{"id":661352,"name":"Jong Woo Lee","orcid":"0000-0001-5283-7476","position":9,"is_corresponding":false},{"id":581107,"name":"Steven Tobochnik","orcid":"0000-0001-9071-8398","position":0,"is_corresponding":true}],"reference_count":46,"raw_metadata":null,"created_at":"2026-07-19T01:19:27.044553Z","pmid":"36865325","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}