{"id":"W3138210879","doi":"10.1212/nxg.0000000000000579","title":"Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder","year":2021,"lang":"en","type":"article","venue":"Neurology Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Children's Hospital","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; Medical Research Council; National Institute for Health and Care Research; McGill University Health Centre; National Health and Medical Research Council; McGill University","keywords":"Status epilepticus; Epilepsy; Pediatrics; Lennox–Gastaut syndrome; Myoclonic Jerk; Medicine; Intellectual disability; Seizure types; Psychology; Psychiatry","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":[0.00005356023,0.0001599132,0.0001812668,0.00005016148,0.00003973706,0.000007068862,0.0001740301,0.0002068284,0.00006272335],"category_scores_gemma":[0.00008194488,0.0001784607,0.00008337032,0.0001624736,0.00009575445,0.000001354156,0.0001934651,0.0001415684,0.000005451458],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004966761,"about_ca_system_score_gemma":0.0002035628,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000134028,"about_ca_topic_score_gemma":0.001468163,"domain_scores_codex":[0.9988315,0.000112872,0.0002574384,0.0004022685,0.00009962123,0.0002962904],"domain_scores_gemma":[0.9994981,0.0000140705,0.00008052165,0.0002894747,0.00004753532,0.00007028962],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002162244,0.0009204361,0.820756,0.00003289577,0.0001089364,0.0001050594,0.0001307614,0.004035174,0.169153,0.00009837442,0.0008141535,0.003628979],"study_design_scores_gemma":[0.00148501,0.0004789282,0.95375,0.000004272732,0.00002772923,0.00004548855,0.0000588062,0.0002501835,0.02214788,0.0005178191,0.02092928,0.0003046238],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966844,0.001556108,0.00004767152,0.0006326778,0.0002793071,0.0001129478,0.00004080356,0.000007039269,0.0006390885],"genre_scores_gemma":[0.9973592,0.001212395,0.0001037923,0.0009257495,0.00004252979,0.000008165471,0.0001669776,0.00003040387,0.0001508199],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1470051,"threshold_uncertainty_score":0.7277418,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003557213458685855,"score_gpt":0.201913607296985,"score_spread":0.1983563938382991,"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."}}