{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001913576,0.0001158302,0.00008053882,0.00007087678,0.0004078114,0.00003469019,0.000199466,0.00006429332,0.00001036572],"category_scores_gemma":[0.00009142342,0.000131222,0.00004328712,0.0002360483,0.0001419034,0.000005601863,0.000478034,0.00008564547,0.00004296321],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000184227,"about_ca_system_score_gemma":0.00009605462,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002039039,"about_ca_topic_score_gemma":0.0007432749,"domain_scores_codex":[0.9992225,0.0000923057,0.0001771926,0.0002328361,0.00009929116,0.000175831],"domain_scores_gemma":[0.9993398,0.00006963992,0.0000496847,0.0004393409,0.00004089687,0.00006067353],"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":[0.00002514217,0.0001224028,0.02385012,0.00002661967,0.00007264235,0.000002805147,0.0007702492,0.0001566412,0.941197,0.0005654259,0.01841236,0.01479863],"study_design_scores_gemma":[0.001150701,0.00016525,0.8436338,0.00004766921,0.00003331762,0.0001646261,0.001672043,0.001114868,0.01453465,0.0009201492,0.1358844,0.0006785457],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9944846,0.0006191983,0.0002962564,0.002243055,0.00007063611,0.0001991446,0.00001904227,0.00004305688,0.002025026],"genre_scores_gemma":[0.9953352,0.000980771,0.001279898,0.0008807905,0.00001272216,0.00007344763,0.0009101885,0.00002059461,0.0005063695],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9266623,"threshold_uncertainty_score":0.5351077,"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."}}