{"id":"W4376959451","doi":"10.1093/braincomms/fcad156","title":"Cation leak: a common functional defect causing <i>HCN1</i> developmental and epileptic encephalopathy","year":2023,"lang":"en","type":"article","venue":"Brain Communications","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"National Health and Medical Research Council; Medical Research Council; Australian Government","keywords":"Xenopus; Epilepsy; Sodium channel; Encephalopathy; Channelopathy; Leak; Medicine; Gating; Internal medicine; Biology; Chemistry; Neuroscience; Sodium; Genetics","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":[0.0001946828,0.0004155837,0.0003447485,0.0004182318,0.000229746,0.0003207793,0.000245163,0.0004714307,0.00136576],"category_scores_gemma":[0.0006754452,0.0001042881,0.0002422208,0.0003134329,0.0004947159,0.0002615188,0.00035068,0.0003840923,0.0002110414],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000222269,"about_ca_system_score_gemma":0.0001309095,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008727766,"about_ca_topic_score_gemma":0.0008069613,"domain_scores_codex":[0.999751,0.00002582609,0.00005490327,0.00008063095,0.00004657065,0.00004098421],"domain_scores_gemma":[0.9996364,0.000107061,0.0001349526,0.00002888757,0.00003965811,0.00005306295],"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":[0.001037159,0.0000695186,0.1238577,0.0001845881,0.0001274919,0.05796641,0.0006378238,0.0003869683,0.8047796,0.000349094,0.0003350608,0.01026845],"study_design_scores_gemma":[0.00006906887,0.0005565244,0.4881304,0.0000566496,0.0001686572,0.2347887,0.0008104634,0.002285586,0.2694591,0.0007499791,0.002872028,0.00005287655],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984648,0.0002039589,0.0008010801,0.00005111246,0.00000753308,0.000006465169,0.00014688,0.00001748876,0.0003008111],"genre_scores_gemma":[0.9994009,0.00005550294,0.0002840892,0.00002849356,0.000004990121,0.000002046466,0.0001184884,0.000007352842,0.00009820858],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00136576,"threshold_uncertainty_score":0.004568875,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03189391723061677,"score_gpt":0.2673817314853118,"score_spread":0.235487814254695,"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."}}