{"id":"W2576230061","doi":"10.1111/epi.13649","title":"De novo <i><scp>SCN</scp>1A</i> pathogenic variants in the <scp>GEFS</scp>+ spectrum: Not always a familial syndrome","year":2017,"lang":"en","type":"article","venue":"Epilepsia","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":37,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"National Health and Medical Research Council","keywords":"Genetics; Medicine; Neuroscience; Biology","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":[0.0005177804,0.0003504256,0.0003152336,0.00006797157,0.0004543065,0.0002613852,0.00128803,0.0003019436,0.00001333732],"category_scores_gemma":[0.0005352859,0.0002912494,0.0002746181,0.00008559896,0.0002098235,0.00001420079,0.0003522341,0.0002677917,0.0001201078],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003502181,"about_ca_system_score_gemma":0.0002502124,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001248813,"about_ca_topic_score_gemma":0.0001328516,"domain_scores_codex":[0.9977959,0.0001509176,0.0003510287,0.0006618694,0.000250599,0.0007896548],"domain_scores_gemma":[0.9980412,0.00008714206,0.0002235846,0.001398209,0.00004544404,0.0002044339],"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":[0.00007686963,0.001062976,0.08543804,0.0001219067,0.0003891168,0.004235732,0.001554908,0.0001418502,0.8561991,0.003121248,0.04583661,0.001821614],"study_design_scores_gemma":[0.002213274,0.0006047376,0.8689573,0.0000534396,0.0001315091,0.001456614,0.0006294246,0.0001633118,0.01994537,0.002553304,0.1030765,0.0002152386],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9899676,0.0008573175,0.0002199844,0.0003102089,0.0004707843,0.0003815215,0.0002917511,0.00002018394,0.007480576],"genre_scores_gemma":[0.996013,0.0005658839,0.000217696,0.001387403,0.0005219697,0.00006773142,0.0001562076,0.00005644543,0.00101362],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8362538,"threshold_uncertainty_score":0.999954,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01147616388781819,"score_gpt":0.2361185129433884,"score_spread":0.2246423490555702,"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."}}