{"id":"W4408490760","doi":"10.1016/j.seizure.2025.03.009","title":"Biallelic SCN1A variants with divergent epilepsy phenotypes","year":2025,"lang":"en","type":"article","venue":"Seizure","topic":"Epilepsy research and treatment","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"McMaster University","funders":"","keywords":"Epilepsy; Phenotype; Genetics; Biology; Medicine; Neuroscience; Gene","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":[0.0006154416,0.001220391,0.0005762063,0.0008369919,0.0005653767,0.000673196,0.000639324,0.001532661,0.008406309],"category_scores_gemma":[0.001817056,0.000202454,0.0007459053,0.0008151865,0.0006098682,0.0004410256,0.0009516607,0.0007361462,0.001003391],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002224144,"about_ca_system_score_gemma":0.0002128232,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001135095,"about_ca_topic_score_gemma":0.002311113,"domain_scores_codex":[0.9992884,0.0001251479,0.0001665824,0.0002188451,0.0001041535,0.00009698197],"domain_scores_gemma":[0.9990699,0.0003176433,0.0002918275,0.00007659461,0.00009129276,0.0001528257],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.01077857,0.00041776,0.4538054,0.0002686407,0.002035212,0.1364549,0.002184454,0.001381645,0.3360252,0.00737667,0.005741972,0.04352951],"study_design_scores_gemma":[0.0007839297,0.0006929968,0.6923269,0.0002984243,0.001291592,0.2734074,0.001473697,0.002231939,0.01114342,0.007762822,0.008393501,0.000193435],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9915984,0.001005128,0.001445041,0.0005980872,0.0001404895,0.00003170472,0.0007435008,0.00003833034,0.004399491],"genre_scores_gemma":[0.9970602,0.0002088751,0.0007894788,0.0003405126,0.00006848622,0.00001270921,0.0006535819,0.00004348528,0.0008226295],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008406309,"threshold_uncertainty_score":0.02812189,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01344820777277735,"score_gpt":0.2886152175424437,"score_spread":0.2751670097696663,"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."}}