{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001643607,0.0005603696,0.0002539764,0.0007732125,0.0003972453,0.0002581634,0.0001811488,0.0003533072,0.001212664],"category_scores_gemma":[0.0009296511,0.0001433874,0.0001527947,0.0003794894,0.0004947194,0.0002384946,0.0003871949,0.0001976664,0.0001735484],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001309287,"about_ca_system_score_gemma":0.0001700508,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005207942,"about_ca_topic_score_gemma":0.0007303192,"domain_scores_codex":[0.9997814,0.00002738969,0.00003960678,0.00007094826,0.00003656669,0.00004407081],"domain_scores_gemma":[0.9996552,0.0001172134,0.00009949395,0.00002633664,0.00002689329,0.00007482417],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000420356,0.00009574341,0.7429079,0.00005420724,0.00007155138,0.1898252,0.0009212051,0.000397579,0.05240183,0.0004803557,0.0003121093,0.01211197],"study_design_scores_gemma":[0.00003226198,0.0002533375,0.4778856,0.00001998492,0.00005544109,0.5157507,0.0005300225,0.0004411787,0.003849156,0.000453956,0.0007101856,0.00001815445],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989392,0.0001444865,0.0002282711,0.00002989165,0.000003161373,0.000004691469,0.00004214614,0.000005390097,0.0006027197],"genre_scores_gemma":[0.9995983,0.00006425664,0.0001596156,0.00002122837,0.000009312886,0.000003229368,0.00006394,0.000002762182,0.00007735973],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001212664,"threshold_uncertainty_score":0.004056752,"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."}}