{"id":"W4313529207","doi":"10.1016/j.seizure.2023.01.001","title":"Pyridoxine supplementation in PACS2-related encephalopathy: A case report of possible precision therapy","year":2023,"lang":"en","type":"article","venue":"Seizure","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Institute of Genetics","keywords":"Dysgenesis; Missense mutation; Encephalopathy; Medicine; Pediatrics; Hum; Internal medicine; Genetics; Mutation; Biology; Gene; Anatomy","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"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":[0.0001680719,0.0009900235,0.0008636815,0.0008846717,0.001242162,0.0006388281,0.0006168375,0.00265834,0.001546003],"category_scores_gemma":[0.00119708,0.0004247971,0.0007444921,0.0006994149,0.001054956,0.001035181,0.0007083754,0.001831369,0.0003535734],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008484045,"about_ca_system_score_gemma":0.000674717,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00210585,"about_ca_topic_score_gemma":0.002145148,"domain_scores_codex":[0.9997997,0.00002811675,0.00003376269,0.00005357663,0.00002307126,0.0000618587],"domain_scores_gemma":[0.9995255,0.0002009798,0.00009387398,0.00004772884,0.00003382871,0.00009806378],"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":[0.0000814018,0.00002686907,0.002042322,0.00002284461,0.00001035297,0.9952408,0.00005477549,0.00004965932,0.0007783018,0.0001456979,0.0001207179,0.001426122],"study_design_scores_gemma":[0.00003092261,0.0001047805,0.002875719,0.00001358726,0.0000424358,0.9938686,0.0000704941,0.0003475301,0.00151579,0.000458614,0.0006600339,0.00001148184],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9743988,0.006208895,0.004488016,0.004782408,0.000209621,0.0001198996,0.0001663997,0.0001081041,0.009517808],"genre_scores_gemma":[0.9944824,0.001715152,0.0008429287,0.0007644214,0.0002412349,0.00001430137,0.00006304096,0.00001578839,0.001860843],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00265834,"threshold_uncertainty_score":0.00615561,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01079653493371864,"score_gpt":0.2834825687774828,"score_spread":0.2726860338437642,"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."}}