{"id":"W3012356126","doi":"10.1016/j.pediatrneurol.2020.02.008","title":"X-Linked Familial Focal Epilepsy Associated With Xp22.31 Deletion","year":2020,"lang":"en","type":"article","venue":"Pediatric Neurology","topic":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre; Montreal Children's Hospital","funders":"McGill University Health Centre; Citizens United for Research in Epilepsy","keywords":"Epilepsy; Cortical dysplasia; Medicine; Phenotype; Age of onset; Genetics; Pathology; Gene; Biology; Psychiatry; Disease","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":[0.0001582431,0.001461955,0.0005687493,0.0008577152,0.0006852804,0.0003133765,0.0004562043,0.001012626,0.002990196],"category_scores_gemma":[0.0007554819,0.0003131781,0.0002945918,0.0008848462,0.0008063198,0.0003574812,0.0007984278,0.0006490682,0.0004877911],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003061695,"about_ca_system_score_gemma":0.0003962196,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001716202,"about_ca_topic_score_gemma":0.001720162,"domain_scores_codex":[0.999843,0.00002716759,0.00001962797,0.00003445355,0.00002207809,0.0000536374],"domain_scores_gemma":[0.9995201,0.000191026,0.0001362397,0.00002798211,0.00002674092,0.00009808195],"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":[0.0001729354,0.00002469389,0.008648487,0.00003567475,0.00001926962,0.9815477,0.0001614303,0.0001200049,0.007191116,0.00034695,0.000225177,0.00150657],"study_design_scores_gemma":[0.00003500617,0.000120809,0.06167808,0.00001206538,0.00006625801,0.9314439,0.0002018786,0.0003906184,0.004311742,0.0004205481,0.001300227,0.00001889829],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9924634,0.0007437804,0.0008122205,0.0003217786,0.0000327176,0.00002913551,0.0002507406,0.00004971322,0.005296563],"genre_scores_gemma":[0.9982074,0.0002057782,0.0002028585,0.00004767272,0.00003774716,0.00000792809,0.0001240808,0.000009110227,0.001157412],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002990196,"threshold_uncertainty_score":0.01000315,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01367932179807294,"score_gpt":0.2277812271397092,"score_spread":0.2141019053416363,"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."}}