{"id":"W2604972317","doi":"10.1002/ana.24929","title":"Myoclonus epilepsy and ataxia due to <scp><i>KCNC</i></scp><i>1</i> mutation: Analysis of 20 cases and <scp>K</scp><sup>+</sup> channel properties","year":2017,"lang":"en","type":"article","venue":"Annals of Neurology","topic":"Neurological disorders and treatments","field":"Medicine","cited_by":89,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"National Health and Medical Research Council; Epilepsiatutkimussäätiö; Suomen Aivosäätiö; Paulon Säätiö; Uniwersytet Warszawski; Medical Research Council; Samfundet Folkhälsan; Emil Aaltosen Säätiö; Warszawski Uniwersytet Medyczny; Biomedicum Helsinki-säätiö; Deutsche Forschungsgemeinschaft; European Science Foundation; Fondazione Telethon; Bundesministerium für Bildung und Forschung; Folkhälsanin Tutkimussäätiö; Helsingin Yliopisto","keywords":"Epilepsy; Ataxia; Myoclonus; Mutation; Progressive myoclonus epilepsy; Neuroscience; Psychology; Medicine; Genetics; Biology; 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":[0.0002011748,0.00078275,0.0003817162,0.0009517001,0.0003653256,0.0002835631,0.0003340553,0.0004358214,0.001135682],"category_scores_gemma":[0.0008076814,0.0003011229,0.0003776395,0.0005254689,0.000529317,0.0003096224,0.0003827884,0.0001909746,0.0003585375],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003073689,"about_ca_system_score_gemma":0.0002506303,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001007789,"about_ca_topic_score_gemma":0.001142887,"domain_scores_codex":[0.9997428,0.00002303563,0.00004540016,0.00008984757,0.00004410766,0.00005485645],"domain_scores_gemma":[0.9995059,0.00009679046,0.000191325,0.00003314137,0.00004265676,0.0001301483],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004360387,0.000126066,0.809117,0.0001355957,0.0001523821,0.1266599,0.0007257164,0.0002978807,0.04824405,0.0000987192,0.0002760059,0.01373058],"study_design_scores_gemma":[0.00003395109,0.0004303035,0.616584,0.00001411317,0.00008519168,0.3770454,0.0002679658,0.00040255,0.004261811,0.00006950497,0.0007866641,0.00001850777],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991984,0.0003004373,0.000198118,0.00001035391,0.000002164425,0.000009340844,0.00004813727,0.000009447789,0.0002236571],"genre_scores_gemma":[0.9994329,0.0001398387,0.0001888749,0.00001169665,0.00001362445,0.000006238453,0.0001135838,0.000003553997,0.00008966198],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001135682,"threshold_uncertainty_score":0.0037992,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06827541670315421,"score_gpt":0.3056930140187338,"score_spread":0.2374175973155796,"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."}}