{"id":"W2135893137","doi":"10.1093/brain/awg286","title":"KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum","year":2003,"lang":"en","type":"article","venue":"Brain","topic":"Ion channel regulation and function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":305,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institutes of Health; McMaster University; W. M. Keck Foundation; McGill University; Children's Hospital of Philadelphia; National Institute of Neurological Disorders and Stroke; Epilepsy Society; University of South Carolina; American Epilepsy Society","keywords":"Phenotype; Mutation; Epilepsy; Genetics; Potassium channel; Gene; Biology; Channelopathy; Medicine; Internal medicine; Neuroscience","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000159479,0.0005912123,0.0002060361,0.0005177941,0.0002216445,0.0001354944,0.0001681003,0.0002909487,0.0009754276],"category_scores_gemma":[0.00044639,0.0001111898,0.0001383803,0.000251683,0.0003137104,0.0001835156,0.0003099358,0.0001606092,0.0002109549],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000273599,"about_ca_system_score_gemma":0.0001908308,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001233017,"about_ca_topic_score_gemma":0.001554379,"domain_scores_codex":[0.9998559,0.00002823398,0.00001945884,0.00002799111,0.00004592873,0.00002261356],"domain_scores_gemma":[0.9998828,0.00003328579,0.00002624414,0.000007614061,0.00001816603,0.00003190679],"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":[0.001026167,0.0001582372,0.1098526,0.0002097752,0.00007496932,0.1251475,0.0008747362,0.0008906861,0.7145265,0.001710484,0.001248516,0.04427993],"study_design_scores_gemma":[0.0001547147,0.000394554,0.3915735,0.0000602161,0.0001256058,0.5280504,0.0003675901,0.001911906,0.06689592,0.001459958,0.008966324,0.00003925724],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975523,0.0006390288,0.0007133009,0.00009795441,0.000006230445,0.000006093905,0.00007474947,0.00002115009,0.0008891955],"genre_scores_gemma":[0.9980421,0.0005081428,0.0007526847,0.00006895547,0.00001799673,0.000009335956,0.0001458616,0.00001688596,0.0004380754],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001233017,"threshold_uncertainty_score":0.003263116,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009992613393915117,"score_gpt":0.2128874208320016,"score_spread":0.2028948074380865,"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."}}