{"id":"W3006717921","doi":"10.3389/fgene.2020.00061","title":"A Rare KIF1A Missense Mutation Enhances Synaptic Function and Increases Seizure Activity","year":2020,"lang":"en","type":"article","venue":"Frontiers in Genetics","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":35,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Chongqing Medical University; Institute of Genetics; National Natural Science Foundation of China","keywords":"Missense mutation; Epilepsy; Zebrafish; Mutation; Exome sequencing; Neuroscience; Epileptogenesis; Hereditary spastic paraplegia; Biology; Epilepsy syndromes; Phenotype; Genetics; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00005713256,0.0001439373,0.0002034323,0.00005777469,0.00006938008,0.00003408261,0.0001117183,0.00009634614,0.00002487578],"category_scores_gemma":[0.001004376,0.0001373392,0.00003306993,0.0002867358,0.0001425263,0.0001186049,0.00005361195,0.0001923103,0.000009226957],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001509341,"about_ca_system_score_gemma":0.00002750473,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000008635426,"about_ca_topic_score_gemma":0.000007689631,"domain_scores_codex":[0.9987372,0.0002587466,0.0001578961,0.000442623,0.0001908235,0.000212679],"domain_scores_gemma":[0.9995381,0.0001417678,0.00006486398,0.0001128692,0.00001420217,0.0001281477],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.002741913,0.000506491,0.07677967,0.0002868397,0.00004815846,0.001091796,0.001502611,0.005673493,0.8306034,0.00008237379,0.01339772,0.06728551],"study_design_scores_gemma":[0.006519826,0.005200532,0.3307823,0.0000863412,0.0002616076,0.0001860276,0.002008149,0.3351088,0.2967614,0.01352457,0.007656854,0.001903608],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9910526,0.0005981426,0.006377522,0.001079796,0.0003535131,0.0002950083,0.00001446508,0.00007297647,0.0001559685],"genre_scores_gemma":[0.9964648,0.0003653704,0.001072186,0.001990988,0.0000621806,0.00001496872,0.000002758078,0.00001407241,0.0000126015],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.533842,"threshold_uncertainty_score":0.5600532,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02354645379918074,"score_gpt":0.2305816507510511,"score_spread":0.2070351969518704,"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."}}