{"id":"W4200062901","doi":"10.3390/brainsci12010018","title":"SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features","year":2021,"lang":"en","type":"article","venue":"Brain Sciences","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Saskatchewan; Royal University Hospital","funders":"","keywords":"Epilepsy; Medicine; Intellectual disability; Epilepsy syndromes; Mutation; Encephalopathy; West Syndrome; Genetics; Pediatrics; Bioinformatics; Gene; Biology; Internal medicine; 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":[],"consensus_categories":[],"category_scores_codex":[0.0002661577,0.0001092284,0.0001239361,0.00002195527,0.0002081675,0.0001187862,0.0001369841,0.00008342058,0.00001442166],"category_scores_gemma":[0.0007805311,0.00009227402,0.0000560683,0.00008629071,0.0005373644,0.000003319153,0.0002069516,0.00004171223,0.000002828037],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000001714221,"about_ca_system_score_gemma":0.0001540275,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007401508,"about_ca_topic_score_gemma":0.00003998404,"domain_scores_codex":[0.9988791,0.0001114475,0.0001689846,0.0005334043,0.00009986443,0.0002072441],"domain_scores_gemma":[0.9994121,0.0001538793,0.00005017178,0.0001921393,0.0000416504,0.0001500641],"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":[0.00006208172,0.0003817154,0.4145272,0.00008448862,0.0001851261,0.0008841841,0.0001940471,0.000219448,0.4443253,0.0006071948,0.01141761,0.1271115],"study_design_scores_gemma":[0.0004781511,0.0004036622,0.9820803,0.0000214668,0.00003661807,0.0008309045,0.00013883,0.00008186557,0.005081311,0.001217346,0.009320496,0.0003090238],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9755843,0.02328646,0.00005302716,0.0006213309,0.0001797105,0.00008102884,0.0000329478,0.000005383361,0.0001558232],"genre_scores_gemma":[0.9923257,0.004416588,0.001283559,0.001578422,0.000159062,0.000006940018,0.00001506594,0.000007891938,0.0002068304],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5675531,"threshold_uncertainty_score":0.3762825,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01594950561745564,"score_gpt":0.2942723771535567,"score_spread":0.2783228715361011,"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."}}