{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001262773,0.0006753593,0.000252143,0.0006080547,0.0003285241,0.0002193145,0.0001935185,0.0002827745,0.002365534],"category_scores_gemma":[0.0008390913,0.00008544308,0.0001634563,0.0002837205,0.0003159079,0.0001666189,0.000470054,0.0002145325,0.0002672253],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002114099,"about_ca_system_score_gemma":0.0001804076,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009150691,"about_ca_topic_score_gemma":0.001652656,"domain_scores_codex":[0.9998355,0.00002396736,0.00002397834,0.00002971209,0.00003689871,0.00004987597],"domain_scores_gemma":[0.9997934,0.00005385107,0.0000633195,0.000006885256,0.00002819395,0.00005435491],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003355786,0.0001110983,0.7384108,0.00012859,0.00006804712,0.1965853,0.0004599767,0.0006115503,0.02552395,0.0005501374,0.001734656,0.03548044],"study_design_scores_gemma":[0.00003411898,0.0003011844,0.6104683,0.00005747816,0.00004836843,0.3833651,0.0003561694,0.00050703,0.002536799,0.0003142197,0.001998948,0.00001231752],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962599,0.0005982782,0.0004089745,0.000114837,0.000007052116,0.00001490729,0.00020971,0.00002891831,0.002357469],"genre_scores_gemma":[0.9990716,0.0001750097,0.0003186481,0.00005491872,0.00001093138,0.000006610178,0.0001597265,0.000005229022,0.0001972578],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002365534,"threshold_uncertainty_score":0.00791347,"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."}}