{"id":"W4309928734","doi":"10.1002/acn3.51707","title":"A <i>KCNC1</i>‐related neurological disorder due to gain of Kv3.1 function","year":2022,"lang":"en","type":"article","venue":"Annals of Clinical and Translational Neurology","topic":"Ion channel regulation and function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":41,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children","funders":"National Institute of Neurological Disorders and Stroke","keywords":"Electrophysiology; Epilepsy; Myoclonus; Hypotonia; Medicine; Missense mutation; Neuroscience; Intellectual disability; Progressive myoclonus epilepsy; Gating; Encephalopathy; Gain of function; Phenotype; Genetics; Biology; Internal medicine; Gene; Psychiatry","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":[0.0001047958,0.0009951347,0.000275788,0.0002728811,0.0004197823,0.0001808714,0.0002682781,0.0005438998,0.002376464],"category_scores_gemma":[0.0004775702,0.00009130774,0.0001667295,0.0002465323,0.0008017401,0.0001807111,0.0002433864,0.000439019,0.0002914064],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003085933,"about_ca_system_score_gemma":0.0003686835,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001299853,"about_ca_topic_score_gemma":0.001322451,"domain_scores_codex":[0.9998946,0.000011581,0.00001488131,0.0000439231,0.0000138229,0.00002115306],"domain_scores_gemma":[0.9997365,0.00008025066,0.00009820474,0.00001275717,0.0000214252,0.00005084088],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.002128398,0.0003808808,0.1762197,0.0004294372,0.0001609211,0.3441073,0.0007326332,0.0007502879,0.4421067,0.001963556,0.003672856,0.02734742],"study_design_scores_gemma":[0.0001354317,0.0007725172,0.2501873,0.00007004889,0.0001470804,0.7106068,0.000231335,0.00101148,0.03207716,0.0005026024,0.004229054,0.00002920769],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9951652,0.0006026183,0.001070957,0.0002169681,0.00003379497,0.00004043853,0.0002298617,0.00005884383,0.002581276],"genre_scores_gemma":[0.9980139,0.0002486309,0.0008020049,0.0001471574,0.00006378089,0.00001336524,0.000214382,0.00001791751,0.0004789013],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002376464,"threshold_uncertainty_score":0.007950068,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0553586529191611,"score_gpt":0.3373640757519301,"score_spread":0.282005422832769,"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."}}