{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.00005409259,0.0002841958,0.0001810821,0.0001757328,0.000241529,0.0001208469,0.0002832236,0.00004826455,0.00003548662],"category_scores_gemma":[0.0005297845,0.0002466778,0.0000851952,0.001071882,0.0001114578,0.0001356004,0.00008736766,0.0001731148,0.0002574812],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003698013,"about_ca_system_score_gemma":0.0001453642,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000439273,"about_ca_topic_score_gemma":0.00002297295,"domain_scores_codex":[0.9977886,0.0001543591,0.0002779492,0.0007435546,0.0006174564,0.0004180745],"domain_scores_gemma":[0.9988765,0.0002185763,0.0001690645,0.0004048327,0.0001929541,0.0001381262],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002024758,0.0008587529,0.02404493,0.00009071363,0.00000865303,0.0005038264,0.0001174709,0.04190301,0.9252299,0.00097665,0.005545575,0.0005180101],"study_design_scores_gemma":[0.003431761,0.002583952,0.09801456,0.00002207486,0.0005991334,0.0007278405,0.00008679934,0.003164786,0.8674908,0.0001043696,0.02211201,0.001661954],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962994,0.0002344427,0.0005615475,0.0001362523,0.0003757547,0.0003774926,0.00007778059,0.0001553815,0.001781976],"genre_scores_gemma":[0.9971206,0.0001112161,0.0004604048,0.0009622947,0.0003352768,0.00001452022,0.00001894889,0.00007570747,0.0009010297],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07396962,"threshold_uncertainty_score":0.9999986,"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."}}