{"id":"W2882999734","doi":"10.1002/jimd.12045","title":"The genotypic spectrum of <i>ALDH7A1</i> mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy","year":2019,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":102,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"National Center for Advancing Translational Sciences; Georgia Clinical and Translational Science Alliance; National Institutes of Health; Seattle Children's Research Institute","keywords":"Epilepsy; Population; In silico; Medicine; Pyridoxine; Genetic testing; Genotype; Disease; Bioinformatics; Encephalopathy; Genetics; Biology; Pediatrics; Internal medicine; Gene; Psychiatry","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.00124556,0.0004840604,0.001742099,0.0003404775,0.00009368217,0.00005999421,0.0009358806,0.0002375361,0.00002623084],"category_scores_gemma":[0.0007017929,0.000334549,0.0009398014,0.0005694387,0.0001930577,0.00001337502,0.0001870046,0.0005163286,0.00001113916],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000150684,"about_ca_system_score_gemma":0.001145455,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001645864,"about_ca_topic_score_gemma":0.00005831181,"domain_scores_codex":[0.9958093,0.0007165555,0.002089495,0.0003970523,0.0005193021,0.000468298],"domain_scores_gemma":[0.9964514,0.0001499046,0.00203867,0.0008421957,0.0002131996,0.000304606],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0006313633,0.0007858283,0.001539725,0.004432013,0.000961768,0.000105544,0.0001786064,0.0005591629,0.0008262779,0.0003551222,0.0007233777,0.9889012],"study_design_scores_gemma":[0.001492164,0.0001441081,0.004659312,0.002253893,0.002021956,0.00005930069,0.0001487194,0.00001967001,0.00008770763,0.0002611642,0.9884033,0.0004487308],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.01251421,0.9854713,0.00009504437,0.00007346005,0.0007698872,0.0007012076,0.0001946855,0.000003833459,0.0001763609],"genre_scores_gemma":[0.01220876,0.9865261,0.0001998006,0.00009494467,0.0004879861,0.00004010949,0.0001522169,0.00007254346,0.0002175059],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9884525,"threshold_uncertainty_score":0.9999107,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02107249830321632,"score_gpt":0.307111003045848,"score_spread":0.2860385047426317,"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."}}