{"id":"W2810232865","doi":"10.1017/cjn.2018.122","title":"P.020 Novel GRIN2A variant in family members with variable phenotypic expression of epilepsy","year":2018,"lang":"en","type":"article","venue":"Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Epilepsy; Electroencephalography; Status epilepticus; Ictal; Sister; Pediatrics; Medicine; Psychology; Epilepsy syndromes; Encephalopathy; Phenotype; Audiology; Neuroscience; Psychiatry; Genetics; Biology; Gene","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002267587,0.001772879,0.0004668082,0.001102293,0.001212229,0.000453542,0.0006884017,0.001459774,0.004278012],"category_scores_gemma":[0.001550207,0.0003304172,0.0005123409,0.0006020233,0.0007800958,0.0003555884,0.0006956732,0.000765992,0.0007825128],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004094646,"about_ca_system_score_gemma":0.0003426693,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002187134,"about_ca_topic_score_gemma":0.001764096,"domain_scores_codex":[0.9996762,0.00005377112,0.00003127654,0.000137164,0.0000491506,0.00005251204],"domain_scores_gemma":[0.9995624,0.0001432757,0.00009712651,0.00002631421,0.0000407812,0.0001300454],"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":[0.0002081277,0.0000762604,0.03926973,0.00003969944,0.00003545401,0.9484882,0.0004686755,0.0001507823,0.007407636,0.0002867113,0.0009275737,0.002641169],"study_design_scores_gemma":[0.00003817548,0.0001319787,0.0386095,0.00002033099,0.00003657332,0.957594,0.0001975358,0.0004290322,0.001438708,0.0002877598,0.001198435,0.00001795323],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9939175,0.0004795202,0.001060249,0.0006155447,0.00008350424,0.00005096758,0.0003820267,0.00006796738,0.003342669],"genre_scores_gemma":[0.9984794,0.0001019342,0.0004642932,0.0001329169,0.00007790868,0.0000146403,0.0001337587,0.00001894718,0.0005762391],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004278012,"threshold_uncertainty_score":0.01431137,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01820936552000366,"score_gpt":0.2319115821872976,"score_spread":0.2137022166672939,"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."}}