{"id":"W4402269323","doi":"10.1002/epd2.20270","title":"Mosaic <i>CLTC</i> pathogenic variant causing focal epilepsy with normal intelligence","year":2024,"lang":"en","type":"article","venue":"Epileptic Disorders","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; Montreal Children's Hospital; McGill University","funders":"Fonds de Recherche du Québec - Santé","keywords":"Epilepsy; Mosaic; Medicine; Biology; Pathology; Neuroscience; Geography","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001338993,0.0002450188,0.0001543883,0.0000611202,0.0001187516,0.0001070062,0.0001783826,0.0001111939,0.0001222021],"category_scores_gemma":[0.00002786923,0.0002041103,0.0001522518,0.0001866748,0.0001484135,0.00000921196,0.0001087798,0.0001316388,0.00007353604],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001868971,"about_ca_system_score_gemma":0.0002147263,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005014535,"about_ca_topic_score_gemma":0.0001870229,"domain_scores_codex":[0.998614,0.00004232063,0.0002271099,0.0005506381,0.0001578271,0.0004081553],"domain_scores_gemma":[0.9993902,0.0000214203,0.00003807771,0.0003626758,0.00003610039,0.0001515384],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00183506,0.0020939,0.01405827,0.001448599,0.002862479,0.003837942,0.002623772,0.02905415,0.2755302,0.01895073,0.03630332,0.6114016],"study_design_scores_gemma":[0.003060136,0.006567455,0.01082688,0.0009641682,0.001389973,0.002871113,0.004612867,0.03083231,0.02781096,0.01029915,0.8945478,0.006217148],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8906645,0.009080615,0.0926861,0.000572384,0.0009291604,0.0004880041,0.0001751869,0.0001111144,0.005292988],"genre_scores_gemma":[0.9971371,0.0007130805,0.0007768056,0.000318044,0.0002116395,0.00003829668,0.0002546025,0.0000567739,0.0004936316],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8582445,"threshold_uncertainty_score":0.8323376,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004882223228237907,"score_gpt":0.2173738210539399,"score_spread":0.212491597825702,"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."}}