{"id":"W2320651639","doi":"10.1055/s-2006-943700","title":"A NOVEL KCNA1 MUTATION CAUSES EPISODIC ATAXIA TYPE 1 WITH PERSISTENT CEREBELLAR DEFICITS","year":2006,"lang":"en","type":"article","venue":"Neuropediatrics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's & Women's Health Centre of British Columbia","funders":"","keywords":"Myokymia; Channelopathy; Ataxia; Mutation; Medicine; Cerebellar ataxia; Epilepsy; Phenotype; Genetics; Ictal; Neuroscience; Biology; Gene; Internal medicine; Physical medicine and rehabilitation; Psychiatry; Electromyography","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":[0.0001805224,0.001528493,0.0004661155,0.0006682334,0.0008525565,0.0003272016,0.0006882239,0.001640777,0.002529027],"category_scores_gemma":[0.001041211,0.0002820212,0.00033824,0.0004364205,0.0007846974,0.0003686931,0.0005372779,0.0006763606,0.0005717512],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005914834,"about_ca_system_score_gemma":0.0003958134,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001738309,"about_ca_topic_score_gemma":0.002796978,"domain_scores_codex":[0.9997706,0.00002274226,0.00002771128,0.00008389384,0.0000391763,0.00005580439],"domain_scores_gemma":[0.9995568,0.0001534469,0.0001231624,0.00001786603,0.000024063,0.0001245614],"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":[0.0003814696,0.0003586522,0.04377485,0.0001534239,0.0001159658,0.8852593,0.001247456,0.0005371788,0.05101916,0.0009715546,0.001607037,0.01457395],"study_design_scores_gemma":[0.0001299513,0.0004845494,0.04464551,0.00005839261,0.00009954842,0.9431279,0.0002370526,0.0005599741,0.007431799,0.0003662984,0.002815026,0.00004399004],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961211,0.0005636903,0.0007098052,0.0003294344,0.00005380664,0.00002557343,0.0001656056,0.00007260271,0.001958324],"genre_scores_gemma":[0.9982314,0.000181042,0.0005929652,0.00009266318,0.0000533056,0.0000100208,0.0000967231,0.0000128867,0.000728972],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002529027,"threshold_uncertainty_score":0.008460402,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02859617402002199,"score_gpt":0.2309990916482668,"score_spread":0.2024029176282448,"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."}}