{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001127081,0.002038172,0.0004950464,0.0006558578,0.0007191371,0.0003744387,0.0005645587,0.001001268,0.002923861],"category_scores_gemma":[0.0008557058,0.0002240794,0.0003662785,0.0005179918,0.0007989256,0.0004227835,0.0006454087,0.0005759735,0.0006167305],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003915585,"about_ca_system_score_gemma":0.0004955735,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002517652,"about_ca_topic_score_gemma":0.002171471,"domain_scores_codex":[0.9998,0.000014844,0.00002248408,0.00005834251,0.0000466493,0.0000577084],"domain_scores_gemma":[0.9996967,0.00007347227,0.00007458141,0.00001650183,0.0000297063,0.0001090735],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001840419,0.00007429891,0.01433973,0.00005177525,0.00002344088,0.9524327,0.0002386598,0.0002307279,0.02479711,0.0007262823,0.001351328,0.005549967],"study_design_scores_gemma":[0.0000416059,0.0002810527,0.03926013,0.00003094711,0.00003928386,0.9528203,0.0001636114,0.0007334633,0.003162697,0.0006524593,0.002787532,0.00002681424],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9810394,0.0009616565,0.002556336,0.0009346187,0.000190683,0.0001578916,0.001081322,0.0002858686,0.01279222],"genre_scores_gemma":[0.9966937,0.0002624896,0.0008952598,0.0002854596,0.0001201096,0.0000249428,0.0003836254,0.00004048863,0.0012939],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002923861,"threshold_uncertainty_score":0.009781361,"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."}}