{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001621784,0.0005855631,0.0002943217,0.0006577373,0.0002426496,0.0002230858,0.0002336677,0.0002016138,0.001622982],"category_scores_gemma":[0.0005054722,0.00008036265,0.0001711232,0.0003973534,0.0002484759,0.0001708345,0.0003859291,0.0001463708,0.0003273024],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002243,"about_ca_system_score_gemma":0.0002309348,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002460878,"about_ca_topic_score_gemma":0.002502057,"domain_scores_codex":[0.9998558,0.00001545195,0.00002397677,0.00004363616,0.00002647762,0.00003476364],"domain_scores_gemma":[0.9998826,0.00002177753,0.00003478779,0.000009478055,0.00001791545,0.00003351717],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009282844,0.0001212431,0.7610797,0.0001739794,0.0001248696,0.08816469,0.001233197,0.0007406835,0.07943497,0.0009120577,0.001830817,0.06525557],"study_design_scores_gemma":[0.0000272454,0.00015348,0.8458916,0.00008883773,0.00008464337,0.1388822,0.0004126322,0.0007083626,0.009363629,0.000806727,0.003560822,0.00001978819],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967394,0.0005096809,0.0003339628,0.00005078558,0.000004257252,0.00001535838,0.00027976,0.00002132527,0.0020454],"genre_scores_gemma":[0.9984077,0.0003454271,0.0003753951,0.0000511545,0.000009305279,0.000008148535,0.0004790309,0.00001283896,0.0003110663],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002460878,"threshold_uncertainty_score":0.005429387,"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."}}