{"id":"W4320496326","doi":"10.1111/epi.17542","title":"<i>WWOX</i>developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk","year":2023,"lang":"en","type":"article","venue":"Epilepsia","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University Health Centre; Montreal Children's Hospital","funders":"National Health and Medical Research Council; Deutsche Forschungsgemeinschaft; Medical Research Council; Australian Government","keywords":"Missense mutation; WWOX; Epileptic spasms; Encephalopathy; Epilepsy; Psychology; Medicine; Internal medicine; Neuroscience; Biology; Genetics; Phenotype; Cancer","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0006621893,0.0001889696,0.0001644882,0.00003560815,0.0005226508,0.00005727989,0.0002019639,0.00008964357,0.00001607294],"category_scores_gemma":[0.0001489464,0.0001188907,0.00005341972,0.0001747887,0.00073269,0.000004316179,0.0003498842,0.0001522822,0.00001956674],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000140107,"about_ca_system_score_gemma":0.00005212611,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002168478,"about_ca_topic_score_gemma":0.00009357432,"domain_scores_codex":[0.9987029,0.0002077779,0.0002293525,0.0004092036,0.0001300477,0.0003206501],"domain_scores_gemma":[0.9994682,0.0001172969,0.00008904238,0.0002374298,0.00001697825,0.00007102777],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003804765,0.00006717844,0.8877307,0.00006147515,0.0004632571,0.00002320843,0.0037874,0.0001197186,0.06415887,0.01767515,0.01413047,0.01140213],"study_design_scores_gemma":[0.0014153,0.00008913009,0.9814388,0.000009153777,0.00004891985,0.00005026858,0.002589019,0.0003804481,0.0009821026,0.007991906,0.004744402,0.0002605405],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9951804,0.0008395888,0.0005865638,0.001249336,0.0001997826,0.0003315081,0.00002186099,0.00002414508,0.001566774],"genre_scores_gemma":[0.9929113,0.006018222,0.0001046465,0.0006160677,0.00003296197,0.00005118133,0.0000441376,0.00002176129,0.000199725],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.09370815,"threshold_uncertainty_score":0.4848221,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02212087670521497,"score_gpt":0.2426876045850683,"score_spread":0.2205667278798533,"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."}}