{"id":"W2898326053","doi":"10.1093/brain/awy263","title":"<i>HCN1</i>mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond","year":2018,"lang":"en","type":"article","venue":"Brain","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":137,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"Université Pierre et Marie Curie; Ministero della Salute; Fondazione Cariplo; Agence Nationale de la Recherche","keywords":"Epilepsy; Missense mutation; Proband; Epileptogenesis; Phenotype; Genetics; Febrile seizure; Encephalopathy; Epilepsy syndromes; West Syndrome; Biology; Medicine; Mutation; Neuroscience; Internal medicine; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009411867,0.0001617527,0.0001176037,0.00004437854,0.000102384,0.00003797522,0.0001372018,0.00008430853,0.00009166824],"category_scores_gemma":[0.00006253512,0.0001692395,0.00003799706,0.00009474695,0.00009116226,0.000003950891,0.0001353714,0.00004437601,0.00006873578],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007743915,"about_ca_system_score_gemma":0.0000397167,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004338903,"about_ca_topic_score_gemma":0.0003641843,"domain_scores_codex":[0.9989461,0.0000530497,0.0001721527,0.000469057,0.0001201037,0.0002395493],"domain_scores_gemma":[0.9995566,0.00001387169,0.00004174536,0.0002176596,0.00003276911,0.0001373331],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001042349,0.00002720542,0.002514459,0.00000386251,0.00002582784,0.000008885443,0.0005203427,0.00001107723,0.9739254,0.0001479473,0.007857684,0.01485306],"study_design_scores_gemma":[0.002346553,0.001524169,0.2515818,0.00001735964,0.0000283377,0.00004530667,0.0003686085,0.0002268894,0.6467572,0.004627971,0.09164813,0.0008275497],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9944824,0.0003456297,0.002454054,0.001280981,0.000213879,0.0002098963,0.00006139131,0.00001321187,0.0009385881],"genre_scores_gemma":[0.9891409,0.00007400844,0.005241008,0.004655109,0.0001554336,0.0000204706,0.0002587529,0.000026553,0.0004277101],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3271681,"threshold_uncertainty_score":0.6901386,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005677530454052527,"score_gpt":0.2234608605218008,"score_spread":0.2177833300677482,"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."}}