{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0008124497,0.0005087377,0.0005712261,0.00005755986,0.0001315696,0.00005810037,0.0005937301,0.001173135,0.000009370146],"category_scores_gemma":[0.0006792795,0.0004182332,0.0002353947,0.0001497913,0.0007922953,0.000003052584,0.000538359,0.001072851,0.00002179453],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000164054,"about_ca_system_score_gemma":0.0003711778,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003237284,"about_ca_topic_score_gemma":0.00001148166,"domain_scores_codex":[0.9965789,0.0003697498,0.001023936,0.0009538505,0.0004680055,0.0006055832],"domain_scores_gemma":[0.9978763,0.0002871275,0.0005274464,0.0008919993,0.0002242634,0.0001929004],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00006190319,0.0001414158,0.05264,0.000155065,0.0004067399,0.000112051,0.0001441718,0.0001249571,0.00770994,0.00001072949,0.9335675,0.004925543],"study_design_scores_gemma":[0.001248757,0.001602224,0.03143722,0.0000844082,0.0003176741,0.00007174176,0.000197171,0.0001602694,0.001358918,0.0007985277,0.9623216,0.0004015096],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9663976,0.01362796,0.0007855076,0.01272311,0.002976135,0.001024176,0.0002595133,0.00003558671,0.002170441],"genre_scores_gemma":[0.7296293,0.02786223,0.0009102703,0.2355826,0.002684468,0.00006404302,0.0008980362,0.0002223386,0.002146734],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2367683,"threshold_uncertainty_score":0.999827,"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."}}