{"id":"W1835236633","doi":"10.1111/cge.12615","title":"Maintaining the balance: both gain‐ and loss‐of‐function <i><scp>KCNA2</scp></i> mutants cause epileptic encephalopathy","year":2015,"lang":"en","type":"letter","venue":"Clinical Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Gain of function; Loss function; Mutant; Epilepsy; Mutation; Encephalopathy; Balance (ability); Function (biology); Biology; Genetics; Neuroscience; Medicine; Phenotype; 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":[0.00053363,0.0005445778,0.0006582362,0.0002818878,0.0007617772,0.0008864474,0.000518259,0.009304376,0.002227194],"category_scores_gemma":[0.004236873,0.0002123998,0.0004195397,0.0002037986,0.001359831,0.001019922,0.0004466352,0.004558835,0.002206829],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00127177,"about_ca_system_score_gemma":0.0003916385,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00120568,"about_ca_topic_score_gemma":0.001058647,"domain_scores_codex":[0.9996269,0.00007802314,0.00005817812,0.00007415189,0.00008640774,0.0000764368],"domain_scores_gemma":[0.9987254,0.0007130069,0.0001174306,0.00009092455,0.0001595981,0.0001936879],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0007994174,0.0001181258,0.01192499,0.0001640465,0.0000899086,0.5056526,0.000404902,0.0007530006,0.01837835,0.009889997,0.3948945,0.05693017],"study_design_scores_gemma":[0.0005940797,0.0004419665,0.01358034,0.0001903058,0.0001546668,0.6970383,0.0006013433,0.004882923,0.01316528,0.02832295,0.2408848,0.0001430333],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.07772332,0.006958863,0.00248423,0.8747845,0.0145111,0.00004970373,0.0002432041,0.0004219689,0.02282311],"genre_scores_gemma":[0.5874504,0.005940367,0.00287338,0.3352482,0.04532184,0.00007115229,0.0001325268,0.0001493304,0.02281286],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.009304376,"threshold_uncertainty_score":0.009227395,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03194504275683484,"score_gpt":0.2917305435451599,"score_spread":0.259785500788325,"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."}}