{"id":"W4394578368","doi":"10.1111/epi.17980","title":"Identification of a mosaic <i>MTOR</i> variant in purified neuronal <scp>DNA</scp> in a patient with focal cortical dysplasia using a novel depth electrode harvesting technique","year":2024,"lang":"en","type":"article","venue":"Epilepsia","topic":"Microfluidic and Bio-sensing Technologies","field":"Engineering","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hotchkiss Brain Institute; Alberta Children's Hospital; University of Calgary","funders":"Canadian Institutes of Health Research; Alberta Children's Hospital Research Institute; Health Canada; Alberta Children's Hospital Foundation; Azrieli Foundation; Canada Foundation for Innovation; Children's Hospital Foundation; Government of Canada; Epilepsy Canada; Fondation Brain Canada; University of Calgary","keywords":"Cortical dysplasia; Electroencephalography; Epilepsy; Somatic cell; Biology; Insula; Stereoelectroencephalography; Pathology; Molecular biology; Neuroscience; Ictal; Anatomy; Medicine; Genetics; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002832213,0.0002127648,0.0002632053,0.0003499344,0.00003018748,0.00005778313,0.0001465603,0.0001866787,0.000001502831],"category_scores_gemma":[0.0001832985,0.0001954627,0.00004113,0.0008140124,0.00009373924,0.0001380527,0.00005254671,0.0005408812,0.000003127467],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001739212,"about_ca_system_score_gemma":0.00008874894,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008759111,"about_ca_topic_score_gemma":0.000070006,"domain_scores_codex":[0.9984746,0.00003941179,0.0005590631,0.0003416277,0.0001960923,0.000389187],"domain_scores_gemma":[0.9994918,0.0001451001,0.000059141,0.0002361272,0.00002811395,0.00003975886],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00001104051,0.00007071227,0.0006815413,0.0001368654,0.00001610805,0.0002026812,0.0002223532,0.001318571,0.9942525,0.001202848,0.0001764959,0.001708253],"study_design_scores_gemma":[0.0003483752,0.0001954788,0.005772197,0.0006864254,0.00003531442,0.0007697531,0.0001503387,0.1983997,0.7926404,0.0002919575,0.0005310176,0.0001789925],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.832899,0.0003112752,0.1657562,0.0000257421,0.00009769907,0.0003465723,0.00001396592,0.0004227149,0.0001267585],"genre_scores_gemma":[0.9900722,0.00003335806,0.009749618,0.00001316521,0.00002047472,0.00004240322,0.00001143434,0.00004599572,0.00001133091],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2016121,"threshold_uncertainty_score":0.7970738,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0122184816267019,"score_gpt":0.2163594403999489,"score_spread":0.204140958773247,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}