{"id":"W3198310084","doi":"10.1371/journal.pone.0257073","title":"Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?","year":2021,"lang":"en","type":"article","venue":"PLoS ONE","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta; Hospital for Sick Children; University of Toronto","funders":"University of Toronto","keywords":"Citric acid cycle; Zebrafish; Biology; Glutamate receptor; Biochemistry; Metabolism","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":[0.0001688041,0.001058675,0.0003133923,0.000647618,0.0001790153,0.0003565299,0.0003240606,0.0009075082,0.002257101],"category_scores_gemma":[0.0001828915,0.000180035,0.0002069925,0.0002574398,0.0005905047,0.0004350502,0.0003493433,0.0003508673,0.0003242108],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002154875,"about_ca_system_score_gemma":0.0001122655,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003684561,"about_ca_topic_score_gemma":0.0003003336,"domain_scores_codex":[0.9999379,0.000007066516,0.000009509491,0.00002087985,0.0000131017,0.00001156072],"domain_scores_gemma":[0.9999212,0.00001973044,0.00002768742,0.000006021267,0.000009992074,0.00001542902],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.002048134,0.0001761975,0.1494052,0.0004384153,0.000248459,0.119957,0.0006544279,0.0006823166,0.6951458,0.002721435,0.0009941603,0.02752846],"study_design_scores_gemma":[0.0002083718,0.001217001,0.3716062,0.0001666333,0.0005791851,0.4374371,0.001002931,0.006405702,0.1624904,0.005781697,0.01303488,0.00006999123],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9913838,0.003353493,0.002670965,0.0005977429,0.00002705189,0.00002528777,0.0002023653,0.00008367736,0.001655664],"genre_scores_gemma":[0.997626,0.000881805,0.0007497601,0.0001599095,0.00002667229,0.00000658857,0.0001305349,0.000009033894,0.0004097291],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002257101,"threshold_uncertainty_score":0.007550776,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02099090978813563,"score_gpt":0.2198107741665743,"score_spread":0.1988198643784387,"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."}}